Canonical Allele Identifier: CA10654731
Gene:

Linked Data

ClinVar Variation Id: 369619
dbSNP Id: rs2740483

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104928254G>C , CM000671.2:g.104928254G>C GRCh38
NC_000009.11:g.107690535G>C , CM000671.1:g.107690535G>C GRCh37
NC_000009.10:g.106730356G>C NCBI36
NG_007981.1:g.4902C>G

Transcript Alleles

HGVS Amino-acid change
XR_930204.1:n.734+344G>C
XR_930204.2:n.115+344G>C