Canonical Allele Identifier: CA11405231
Gene:

Linked Data

dbSNP Id: rs7625909
gnomAD v2: 3-53091164-C-T
gnomAD v3: 3-53057148-C-T
gnomAD v4: 3-53057148-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057148C>T , CM000665.2:g.53057148C>T GRCh38
NC_000003.11:g.53091164C>T , CM000665.1:g.53091164C>T GRCh37
NC_000003.10:g.53066204C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000607203.1:c.318-9909G>A
ENST00000607283.5:c.465-13894G>A
ENST00000607495.5:c.447+20540G>A