Canonical Allele Identifier: CA573373514
Gene:

Linked Data

dbSNP Id: rs1319434741
gnomAD v2: 7-24323449-T-A
gnomAD v3: 7-24283830-T-A
gnomAD v4: 7-24283830-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24283830T>A , CM000669.2:g.24283830T>A GRCh38
NC_000007.13:g.24323449T>A , CM000669.1:g.24323449T>A GRCh37
NC_000007.12:g.24289974T>A NCBI36
NG_016148.1:g.4643T>A

Transcript Alleles

HGVS Amino-acid change
XM_017012910.1:c.42-28131A>T XP_016868399.1:n.42-28131A>T
XM_017012911.1:c.42-28131A>T XP_016868400.1:n.42-28131A>T
XR_001745121.1:n.473+35527A>T
XR_001745122.1:n.345-86801A>T
XR_001745123.1:n.473+35527A>T
XR_001745124.1:n.473+35527A>T
XR_001745125.1:n.473+35527A>T
XR_001745126.1:n.473+35527A>T
XR_001745127.1:n.345-28131A>T
XR_001745129.1:n.473+35527A>T
XR_001745130.1:n.473+35527A>T
XR_001745131.1:n.473+35527A>T
XR_001745132.1:n.473+35527A>T