Canonical Allele Identifier: CA12243729
Gene:

Linked Data

dbSNP Id: rs2380220
gnomAD v2: 6-95967412-T-C
gnomAD v3: 6-95519536-T-C
gnomAD v4: 6-95519536-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.95519536T>C , CM000668.2:g.95519536T>C GRCh38
NC_000006.11:g.95967412T>C , CM000668.1:g.95967412T>C GRCh37
NC_000006.10:g.96074133T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_942795.1:n.30A>G