Canonical Allele Identifier: CA16295906
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs1000597

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897563T>C , CM000669.2:g.30897563T>C GRCh38
NC_000007.13:g.30937178T>C , CM000669.1:g.30937178T>C GRCh37
NC_000007.12:g.30903703T>C NCBI36
NG_007475.2:g.49170T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:n.622-14430T>C