Canonical Allele Identifier: CA13211990
Gene:

Linked Data

dbSNP Id: rs12246027
gnomAD v2: 10-318076-G-A
gnomAD v3: 10-272136-G-A
gnomAD v4: 10-272136-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.272136G>A , CM000672.2:g.272136G>A GRCh38
NC_000010.10:g.318076G>A , CM000672.1:g.318076G>A GRCh37
NC_000010.9:g.308076G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001747315.1:n.292-715C>T
XR_001747316.1:n.291+1190C>T