Canonical Allele Identifier: CA851031664
Gene:

Linked Data

dbSNP Id: rs1315752322
gnomAD v3: 8-33808172-T-C
gnomAD v4: 8-33808172-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808172T>C , CM000670.2:g.33808172T>C GRCh38
NC_000008.10:g.33665690T>C , CM000670.1:g.33665690T>C GRCh37
NC_000008.9:g.33785232T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949659.1:n.240+11736T>C
XR_002956701.1:n.240+11736T>C