Canonical Allele Identifier: CA116119
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 3260
ClinVar RCV Id: RCV000003416
dbSNP Id: rs104894656

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885159G>C , CM000680.2:g.13885159G>C GRCh38
NC_000018.9:g.13885158G>C , CM000680.1:g.13885158G>C GRCh37
NC_000018.8:g.13875158G>C NCBI36
NG_011819.1:g.35378C>G

Transcript Alleles

HGVS Amino-acid change
NM_000529.2:c.360C>G VV NP_000520.1:p.Ser120Arg
NM_001291911.1:c.360C>G VV NP_001278840.1:p.Ser120Arg
XM_017025781.1:c.360C>G XP_016881270.1:p.Ser120Arg
ENST00000327606.3:c.360C>G ENSP00000333821.2:p.Ser120Arg
ENST00000399821.2:c.360C>G ENSP00000382718.2:p.Ser120Arg