ClinVar

NM_003742.4(ABCB11):c.2439A>G (p.Gln813=)

Gene:

ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 168944866 (on Assembly GRCh38)
• Chr2: 169801376 (on Assembly GRCh37)

Preferred name:

NM_003742.4(ABCB11):c.2439A>G (p.Gln813=)

HGVS:

• NC_000002.12:g.168944866T>C
• NG_007374.2:g.91531A>G
• NM_003742.4:c.2439A>GMANE SELECT
• NP_003733.2:p.Gln813=
• LRG_1199t1:c.2439A>G
• LRG_1199:g.91531A>G
• LRG_1199p1:p.Gln813=
• NC_000002.11:g.169801376T>C
• NG_007374.1:g.91458A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs776712250

NCBI 1000 Genomes Browser:

rs776712250

Molecular consequence:

• NM_003742.4:c.2439A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2