Linked Data
ClinVar Variation Id:
13255
ClinVar RCV Id:
RCV000033208
dbSNP Id:
rs104893674
PubMed:
PMID:8202713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97737828C>A , CM000664.2:g.97737828C>A | GRCh38 |
| NC_000002.11:g.98354291C>A , CM000664.1:g.98354291C>A | GRCh37 |
| NC_000002.10:g.97720723C>A | NCBI36 |
| NG_007727.1:g.29261C>A , LRG_126:g.29261C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698508.1:c.1554C>A | ENSP00000513759.1:p.Ser518Arg | |
| ENST00000698509.1:n.1694C>A | ||
| ENST00000264972.10:c.1554C>A MANE Select | ENSP00000264972.5:p.Ser518Arg | |
| ENST00000264972.9:c.1554C>A | ENSP00000264972.5:p.Ser518Arg | |
| ENST00000451498.2:c.633C>A | ENSP00000400475.2:p.Ser211Arg | |
| ENST00000463643.5:n.1415C>A | ||
| ENST00000487283.5:n.2606C>A | ||
| ENST00000489250.1:n.7C>A | ||
| ENST00000495754.1:n.492C>A | ||
| NM_001079.3:c.1554C>A , LRG_126t1:c.1554C>A | NP_001070.2:p.Ser518Arg | |
| NM_207519.1:c.633C>A | NP_997402.1:p.Ser211Arg | |
| XM_005264015.3:c.1536C>A | XP_005264072.1:p.Ser512Arg | |
| XM_006712728.2:c.1554C>A | XP_006712791.1:p.Ser518Arg | |
| XM_011511783.1:c.1554C>A | XP_011510085.1:p.Ser518Arg | |
| XR_923018.1:n.1756C>A | ||
| XR_923019.1:n.1756C>A | ||
| XR_923020.1:n.1756C>A | ||
| XM_017004867.1:c.1923C>A | XP_016860356.1:p.Ser641Arg | |
| XM_017004868.1:c.1905C>A | XP_016860357.1:p.Ser635Arg | |
| XM_017004869.1:c.1923C>A | XP_016860358.1:p.Ser641Arg | |
| XM_017004870.1:c.1923C>A | XP_016860359.1:p.Ser641Arg | |
| XR_001738925.1:n.3162C>A | ||
| XR_001738926.1:n.3162C>A | ||
| XR_001738927.1:n.3162C>A | ||
| NM_001079.4:c.1554C>A MANE Select | NP_001070.2:p.Ser518Arg | |
| NM_001378594.1:c.1554C>A | NP_001365523.1:p.Ser518Arg | |
| NM_207519.2:c.633C>A | NP_997402.1:p.Ser211Arg |