dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs747949519
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr10:98209427 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.000004 (1/249824, GnomAD_exome)T=0.000008 (1/120912, ExAC)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- R3HCC1L : Missense Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
Help
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 249824 | G=0.999996 | T=0.000004 |
| gnomAD - Exomes | European | Sub | 133956 | G=0.999993 | T=0.000007 |
| gnomAD - Exomes | Asian | Sub | 48946 | G=1.00000 | T=0.00000 |
| gnomAD - Exomes | American | Sub | 34520 | G=1.00000 | T=0.00000 |
| gnomAD - Exomes | African | Sub | 16242 | G=1.00000 | T=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10046 | G=1.00000 | T=0.00000 |
| gnomAD - Exomes | Other | Sub | 6114 | G=1.0000 | T=0.0000 |
| ExAC | Global | Study-wide | 120912 | G=0.999992 | T=0.000008 |
| ExAC | Europe | Sub | 73156 | G=0.99999 | T=0.00001 |
| ExAC | Asian | Sub | 25062 | G=1.00000 | T=0.00000 |
| ExAC | American | Sub | 11486 | G=1.00000 | T=0.00000 |
| ExAC | African | Sub | 10302 | G=1.00000 | T=0.00000 |
| ExAC | Other | Sub | 906 | G=1.000 | T=0.000 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.98209427G>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.99969184G>T |
Gene: R3HCC1L, R3H domain and coiled-coil containing 1 like
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| R3HCC1L transcript variant 5 |
NM_001256621.2:c.4-22085G… NM_001256621.2:c.4-22085G>T |
N/A | Intron Variant |
| R3HCC1L transcript variant 11 | NM_001351015.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337944.2:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 1 | NM_001256619.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 1 | NP_001243548.2:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 4 | NM_014472.5:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_055287.5:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 13 | NM_001351017.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337946.2:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 10 | NM_001351014.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337943.2:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 2 | NM_138469.3:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_612478.3:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 9 | NM_001351013.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337942.2:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 6 | NM_001351010.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337939.2:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 12 | NM_001351016.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337945.2:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 7 | NM_001351011.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337940.2:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 8 | NM_001351012.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337941.2:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant 3 | NM_001256620.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001243549.2:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X1 | XM_011539640.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537942.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X2 | XM_011539644.3:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537946.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X3 | XM_024447941.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_024303709.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X4 | XM_011539641.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537943.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X5 | XM_047425061.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281017.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X6 | XM_047425062.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281018.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X7 | XM_047425063.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281019.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X8 | XM_047425064.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281020.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X9 | XM_011539645.3:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537947.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X10 | XM_011539643.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537945.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X11 | XM_011539642.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537944.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X12 | XM_047425065.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281021.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X13 | XM_011539646.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537948.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X14 | XM_047425066.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281022.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X15 | XM_047425067.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281023.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X16 | XM_011539648.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537950.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X17 | XM_017016081.2:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_016871570.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X18 | XM_047425068.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281024.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X19 | XM_047425069.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281025.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X20 | XM_047425070.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281026.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X21 | XM_047425071.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281027.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X22 | XM_047425072.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281028.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X23 | XM_047425073.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281029.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X24 | XM_047425074.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281030.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X25 | XM_047425075.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281031.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X26 | XM_047425076.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281032.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X27 | XM_047425077.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281033.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X28 | XM_047425078.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281034.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X29 | XM_047425079.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281035.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X30 | XM_047425080.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X3 | XP_047281036.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X31 | XM_047425081.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X3 | XP_047281037.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X32 | XM_047425082.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X3 | XP_047281038.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X33 | XM_047425083.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X3 | XP_047281039.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X34 | XM_047425084.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X3 | XP_047281040.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X35 | XM_047425085.1:c.1313G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| coiled-coil domain-containing protein R3HCC1L isoform X4 | XP_047281041.1:p.Ser438Ile | S (Ser) > I (Ile) | Missense Variant |
| R3HCC1L transcript variant X36 | XR_007061959.1:n.1727G>T | N/A | Non Coding Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | T |
|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.98209427= | NC_000010.11:g.98209427G>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.99969184= | NC_000010.10:g.99969184G>T |
| R3HCC1L transcript variant 4 | NM_014472.5:c.1313= | NM_014472.5:c.1313G>T |
| R3HCC1L transcript variant 4 | NM_014472.4:c.1313= | NM_014472.4:c.1313G>T |
| R3HCC1L transcript variant X9 | XM_011539645.3:c.1313= | XM_011539645.3:c.1313G>T |
| R3HCC1L transcript variant X7 | XM_011539645.2:c.1313= | XM_011539645.2:c.1313G>T |
| R3HCC1L transcript variant X7 | XM_011539645.1:c.1313= | XM_011539645.1:c.1313G>T |
| R3HCC1L transcript variant 2 | NM_138469.3:c.1313= | NM_138469.3:c.1313G>T |
| R3HCC1L transcript variant 2 | NM_138469.2:c.1313= | NM_138469.2:c.1313G>T |
| R3HCC1L transcript variant X2 | XM_011539644.3:c.1313= | XM_011539644.3:c.1313G>T |
| R3HCC1L transcript variant X6 | XM_011539644.2:c.1313= | XM_011539644.2:c.1313G>T |
| R3HCC1L transcript variant X6 | XM_011539644.1:c.1313= | XM_011539644.1:c.1313G>T |
| R3HCC1L transcript variant X11 | XM_011539642.2:c.1313= | XM_011539642.2:c.1313G>T |
| R3HCC1L transcript variant X5 | XM_011539642.1:c.1313= | XM_011539642.1:c.1313G>T |
| R3HCC1L transcript variant X17 | XM_017016081.2:c.1313= | XM_017016081.2:c.1313G>T |
| R3HCC1L transcript variant X13 | XM_017016081.1:c.1313= | XM_017016081.1:c.1313G>T |
| R3HCC1L transcript variant 8 | NM_001351012.2:c.1313= | NM_001351012.2:c.1313G>T |
| R3HCC1L transcript variant 8 | NM_001351012.1:c.1313= | NM_001351012.1:c.1313G>T |
| R3HCC1L transcript variant 6 | NM_001351010.2:c.1313= | NM_001351010.2:c.1313G>T |
| R3HCC1L transcript variant 6 | NM_001351010.1:c.1313= | NM_001351010.1:c.1313G>T |
| R3HCC1L transcript variant X1 | XM_011539640.2:c.1313= | XM_011539640.2:c.1313G>T |
| R3HCC1L transcript variant X2 | XM_011539640.1:c.1313= | XM_011539640.1:c.1313G>T |
| R3HCC1L transcript variant 7 | NM_001351011.2:c.1313= | NM_001351011.2:c.1313G>T |
| R3HCC1L transcript variant 7 | NM_001351011.1:c.1313= | NM_001351011.1:c.1313G>T |
| R3HCC1L transcript variant 10 | NM_001351014.2:c.1313= | NM_001351014.2:c.1313G>T |
| R3HCC1L transcript variant 10 | NM_001351014.1:c.1313= | NM_001351014.1:c.1313G>T |
| R3HCC1L transcript variant X4 | XM_011539641.2:c.1313= | XM_011539641.2:c.1313G>T |
| R3HCC1L transcript variant X3 | XM_011539641.1:c.1313= | XM_011539641.1:c.1313G>T |
| R3HCC1L transcript variant 1 | NM_001256619.2:c.1313= | NM_001256619.2:c.1313G>T |
| R3HCC1L transcript variant 1 | NM_001256619.1:c.1313= | NM_001256619.1:c.1313G>T |
| R3HCC1L transcript variant 11 | NM_001351015.2:c.1313= | NM_001351015.2:c.1313G>T |
| R3HCC1L transcript variant 11 | NM_001351015.1:c.1313= | NM_001351015.1:c.1313G>T |
| R3HCC1L transcript variant X10 | XM_011539643.2:c.1313= | XM_011539643.2:c.1313G>T |
| R3HCC1L transcript variant X8 | XM_011539643.1:c.1313= | XM_011539643.1:c.1313G>T |
| R3HCC1L transcript variant X3 | XM_024447941.2:c.1313= | XM_024447941.2:c.1313G>T |
| R3HCC1L transcript variant X10 | XM_024447941.1:c.1313= | XM_024447941.1:c.1313G>T |
| R3HCC1L transcript variant 3 | NM_001256620.2:c.1313= | NM_001256620.2:c.1313G>T |
| R3HCC1L transcript variant 3 | NM_001256620.1:c.1313= | NM_001256620.1:c.1313G>T |
| R3HCC1L transcript variant 13 | NM_001351017.2:c.1313= | NM_001351017.2:c.1313G>T |
| R3HCC1L transcript variant 13 | NM_001351017.1:c.1313= | NM_001351017.1:c.1313G>T |
| R3HCC1L transcript variant X13 | XM_011539646.2:c.1313= | XM_011539646.2:c.1313G>T |
| R3HCC1L transcript variant X9 | XM_011539646.1:c.1313= | XM_011539646.1:c.1313G>T |
| R3HCC1L transcript variant 9 | NM_001351013.2:c.1313= | NM_001351013.2:c.1313G>T |
| R3HCC1L transcript variant 9 | NM_001351013.1:c.1313= | NM_001351013.1:c.1313G>T |
| R3HCC1L transcript variant X16 | XM_011539648.2:c.1313= | XM_011539648.2:c.1313G>T |
| R3HCC1L transcript variant X11 | XM_011539648.1:c.1313= | XM_011539648.1:c.1313G>T |
| R3HCC1L transcript variant 12 | NM_001351016.2:c.1313= | NM_001351016.2:c.1313G>T |
| R3HCC1L transcript variant 12 | NM_001351016.1:c.1313= | NM_001351016.1:c.1313G>T |
| R3HCC1L transcript variant X25 | XM_047425075.1:c.1313= | XM_047425075.1:c.1313G>T |
| R3HCC1L transcript variant X14 | XM_047425066.1:c.1313= | XM_047425066.1:c.1313G>T |
| R3HCC1L transcript variant X22 | XM_047425072.1:c.1313= | XM_047425072.1:c.1313G>T |
| R3HCC1L transcript variant X12 | XM_047425065.1:c.1313= | XM_047425065.1:c.1313G>T |
| R3HCC1L transcript variant X7 | XM_047425063.1:c.1313= | XM_047425063.1:c.1313G>T |
| R3HCC1L transcript variant X24 | XM_047425074.1:c.1313= | XM_047425074.1:c.1313G>T |
| R3HCC1L transcript variant X21 | XM_047425071.1:c.1313= | XM_047425071.1:c.1313G>T |
| R3HCC1L transcript variant X15 | XM_047425067.1:c.1313= | XM_047425067.1:c.1313G>T |
| R3HCC1L transcript variant X29 | XM_047425079.1:c.1313= | XM_047425079.1:c.1313G>T |
| R3HCC1L transcript variant X27 | XM_047425077.1:c.1313= | XM_047425077.1:c.1313G>T |
| R3HCC1L transcript variant X18 | XM_047425068.1:c.1313= | XM_047425068.1:c.1313G>T |
| R3HCC1L transcript variant X5 | XM_047425061.1:c.1313= | XM_047425061.1:c.1313G>T |
| R3HCC1L transcript variant X20 | XM_047425070.1:c.1313= | XM_047425070.1:c.1313G>T |
| R3HCC1L transcript variant X6 | XM_047425062.1:c.1313= | XM_047425062.1:c.1313G>T |
| R3HCC1L transcript variant X19 | XM_047425069.1:c.1313= | XM_047425069.1:c.1313G>T |
| R3HCC1L transcript variant X26 | XM_047425076.1:c.1313= | XM_047425076.1:c.1313G>T |
| R3HCC1L transcript variant X8 | XM_047425064.1:c.1313= | XM_047425064.1:c.1313G>T |
| R3HCC1L transcript variant X23 | XM_047425073.1:c.1313= | XM_047425073.1:c.1313G>T |
| R3HCC1L transcript variant X28 | XM_047425078.1:c.1313= | XM_047425078.1:c.1313G>T |
| R3HCC1L transcript variant X33 | XM_047425083.1:c.1313= | XM_047425083.1:c.1313G>T |
| R3HCC1L transcript variant X30 | XM_047425080.1:c.1313= | XM_047425080.1:c.1313G>T |
| R3HCC1L transcript variant X31 | XM_047425081.1:c.1313= | XM_047425081.1:c.1313G>T |
| R3HCC1L transcript variant X32 | XM_047425082.1:c.1313= | XM_047425082.1:c.1313G>T |
| R3HCC1L transcript variant X36 | XR_007061959.1:n.1727= | XR_007061959.1:n.1727G>T |
| R3HCC1L transcript variant X34 | XM_047425084.1:c.1313= | XM_047425084.1:c.1313G>T |
| R3HCC1L transcript variant X35 | XM_047425085.1:c.1313= | XM_047425085.1:c.1313G>T |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_055287.5:p.Ser438= | NP_055287.5:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537947.1:p.Ser438= | XP_011537947.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_612478.3:p.Ser438= | NP_612478.3:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537946.1:p.Ser438= | XP_011537946.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537944.1:p.Ser438= | XP_011537944.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_016871570.1:p.Ser438= | XP_016871570.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337941.2:p.Ser438= | NP_001337941.2:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337939.2:p.Ser438= | NP_001337939.2:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537942.1:p.Ser438= | XP_011537942.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337940.2:p.Ser438= | NP_001337940.2:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337943.2:p.Ser438= | NP_001337943.2:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537943.1:p.Ser438= | XP_011537943.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 1 | NP_001243548.2:p.Ser438= | NP_001243548.2:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337944.2:p.Ser438= | NP_001337944.2:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537945.1:p.Ser438= | XP_011537945.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_024303709.1:p.Ser438= | XP_024303709.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001243549.2:p.Ser438= | NP_001243549.2:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337946.2:p.Ser438= | NP_001337946.2:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537948.1:p.Ser438= | XP_011537948.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337942.2:p.Ser438= | NP_001337942.2:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_011537950.1:p.Ser438= | XP_011537950.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001337945.2:p.Ser438= | NP_001337945.2:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281031.1:p.Ser438= | XP_047281031.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281022.1:p.Ser438= | XP_047281022.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281028.1:p.Ser438= | XP_047281028.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281021.1:p.Ser438= | XP_047281021.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281019.1:p.Ser438= | XP_047281019.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281030.1:p.Ser438= | XP_047281030.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281027.1:p.Ser438= | XP_047281027.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281023.1:p.Ser438= | XP_047281023.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281035.1:p.Ser438= | XP_047281035.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281033.1:p.Ser438= | XP_047281033.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281024.1:p.Ser438= | XP_047281024.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281017.1:p.Ser438= | XP_047281017.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281026.1:p.Ser438= | XP_047281026.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281018.1:p.Ser438= | XP_047281018.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281025.1:p.Ser438= | XP_047281025.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281032.1:p.Ser438= | XP_047281032.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X1 | XP_047281020.1:p.Ser438= | XP_047281020.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281029.1:p.Ser438= | XP_047281029.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X2 | XP_047281034.1:p.Ser438= | XP_047281034.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X3 | XP_047281039.1:p.Ser438= | XP_047281039.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X3 | XP_047281036.1:p.Ser438= | XP_047281036.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X3 | XP_047281037.1:p.Ser438= | XP_047281037.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X3 | XP_047281038.1:p.Ser438= | XP_047281038.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X3 | XP_047281040.1:p.Ser438= | XP_047281040.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform X4 | XP_047281041.1:p.Ser438= | XP_047281041.1:p.Ser438Ile |
| R3HCC1L transcript variant 5 | NM_001256621.1:c.4-22085= | NM_001256621.1:c.4-22085G>T |
| R3HCC1L transcript variant 5 | NM_001256621.2:c.4-22085= | NM_001256621.2:c.4-22085G>T |
| coiled-coil domain-containing protein R3HCC1L isoform 1 | NP_001243548.1:p.Ser438= | NP_001243548.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_001243549.1:p.Ser438= | NP_001243549.1:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_055287.4:p.Ser438= | NP_055287.4:p.Ser438Ile |
| coiled-coil domain-containing protein R3HCC1L isoform 2 | NP_612478.2:p.Ser438= | NP_612478.2:p.Ser438Ile |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
2 SubSNP,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_EXAC | ss1690031141 | Apr 01, 2015 (144) |
| 2 | GNOMAD | ss2738450598 | Nov 08, 2017 (151) |
| 3 | ExAC | NC_000010.10 - 99969184 | Oct 12, 2018 (152) |
| 4 | gnomAD - Exomes | NC_000010.10 - 99969184 | Jul 13, 2019 (153) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs747949519
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.