Canonical Allele Identifier: CA136479691
Gene:

Linked Data

dbSNP Id: rs890663120
gnomAD v3: 6-23077019-T-C
gnomAD v4: 6-23077019-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.23077019T>C , CM000668.2:g.23077019T>C GRCh38
NC_000006.11:g.23077247T>C , CM000668.1:g.23077247T>C GRCh37
NC_000006.10:g.23185226T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926583.1:n.246-19952A>G
XR_926584.1:n.246-60199A>G
XR_926583.2:n.246-19952A>G