Canonical Allele Identifier: CA189390712
Gene:

Linked Data

dbSNP Id: rs1780159
gnomAD v2: 9-15157977-T-C
gnomAD v3: 9-15157979-T-C
gnomAD v4: 9-15157979-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15157979T>C , CM000671.2:g.15157979T>C GRCh38
NC_000009.11:g.15157977T>C , CM000671.1:g.15157977T>C GRCh37
NC_000009.10:g.15147977T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929492.1:n.250-4928T>C
XR_929493.1:n.194-4928T>C
XR_001746624.2:n.879-4928T>C
XR_929492.3:n.279-4928T>C
XR_929493.3:n.194-4928T>C