Canonical Allele Identifier: CA817908401
Gene:

Linked Data

dbSNP Id: rs1364128984
gnomAD v3: 6-11943351-C-T
gnomAD v4: 6-11943351-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943351C>T , CM000668.2:g.11943351C>T GRCh38
NC_000006.11:g.11943584C>T , CM000668.1:g.11943584C>T GRCh37
NC_000006.10:g.12051570C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-8184C>T