Canonical Allele Identifier: CA115158
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 1709
dbSNP Id: rs3793784

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49539493G>C , CM000672.2:g.49539493G>C GRCh38
NC_000010.10:g.50747539G>C , CM000672.1:g.50747539G>C GRCh37
NC_000010.9:g.50417545G>C NCBI36
NG_009442.1:g.4609C>G , LRG_465:g.4609C>G

Transcript Alleles

HGVS Amino-acid change
NM_001277059.1:c.-76C>G VV NP_001263988.1:p.=
ENST00000462247.1:c.-76C>G ENSP00000422827.1:p.=
ENST00000515869.1:c.-76C>G ENSP00000423550.1:p.=