Linked Data
ClinVar Variation Id:
433368
ClinVar RCV Id:
RCV000499131
dbSNP Id:
rs63750874
PubMed:
PMID:17617515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150144C>T , CM000678.2:g.16150144C>T | GRCh38 |
| NC_000016.9:g.16244001C>T , CM000678.1:g.16244001C>T | GRCh37 |
| NC_000016.8:g.16151502C>T | NCBI36 |
| NG_007558.2:g.78328G>A | |
| NG_007558.3:g.78474G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*673G>A | ENSP00000483331.2:n.*673G>A | |
| ENST00000205557.12:c.4501G>A MANE Select | ENSP00000205557.7:p.Gly1501Ser | |
| ENST00000640696.1:c.1315G>A | ENSP00000492197.1:p.Gly439Ser | |
| ENST00000205557.11:c.4501G>A | ENSP00000205557.7:p.Gly1501Ser | |
| ENST00000456970.6:c.4126G>A | ENSP00000405002.2:n.4126G>A | |
| ENST00000576204.5:n.1364G>A | ||
| ENST00000622290.4:c.*1710G>A | ENSP00000483331.1:n.*1710G>A | |
| NM_001171.5:c.4501G>A | NP_001162.4:p.Gly1501Ser | |
| XM_011522479.1:c.4468G>A | XP_011520781.1:p.Gly1490Ser | |
| XM_011522480.1:c.4159G>A | XP_011520782.1:p.Gly1387Ser | |
| XM_011522481.1:c.4159G>A | XP_011520783.1:p.Gly1387Ser | |
| XR_933134.1:n.538+5854C>T | ||
| NM_001351800.1:c.4159G>A | NP_001338729.1:p.Gly1387Ser | |
| NR_147784.1:n.4163G>A | ||
| XM_011522479.2:c.4468G>A | XP_011520781.1:p.Gly1490Ser | |
| XM_011522481.3:c.4159G>A | XP_011520783.1:p.Gly1387Ser | |
| XM_017023212.1:c.4333G>A | XP_016878701.1:p.Gly1445Ser | |
| XM_024450261.1:c.4537G>A | XP_024306029.1:p.Gly1513Ser | |
| NM_001171.6:c.4501G>A MANE Select | NP_001162.5:p.Gly1501Ser |