Canonical Allele Identifier: CA175153954
Gene:

Linked Data

dbSNP Id: rs183228555
gnomAD v2: 8-33665709-A-C
gnomAD v3: 8-33808191-A-C
gnomAD v4: 8-33808191-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808191A>C , CM000670.2:g.33808191A>C GRCh38
NC_000008.10:g.33665709A>C , CM000670.1:g.33665709A>C GRCh37
NC_000008.9:g.33785251A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949659.1:n.240+11755A>C
XR_002956701.1:n.240+11755A>C