Canonical Allele Identifier: CA155829831
Gene:

Linked Data

dbSNP Id: rs548836609
gnomAD v2: 7-24331505-C-T
gnomAD v3: 7-24291886-C-T
gnomAD v4: 7-24291886-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24291886C>T , CM000669.2:g.24291886C>T GRCh38
NC_000007.13:g.24331505C>T , CM000669.1:g.24331505C>T GRCh37
NC_000007.12:g.24298030C>T NCBI36
NG_016148.1:g.12699C>T

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.41+27471G>A XP_016868399.1:n.41+27471G>A
XM_017012911.1:c.41+27471G>A XP_016868400.1:n.41+27471G>A
XR_001745121.1:n.473+27471G>A
XR_001745122.1:n.345-94857G>A
XR_001745123.1:n.473+27471G>A
XR_001745124.1:n.473+27471G>A
XR_001745125.1:n.473+27471G>A
XR_001745126.1:n.473+27471G>A
XR_001745127.1:n.345-36187G>A
XR_001745129.1:n.473+27471G>A
XR_001745130.1:n.473+27471G>A
XR_001745131.1:n.473+27471G>A
XR_001745132.1:n.473+27471G>A