Linked Data
ClinVar Variation Id:
5606
dbSNP Id:
rs79833450
ExAC:
9:34513163 G / A
gnomAD v2:
9-34513163-G-A
gnomAD v3:
9-34513165-G-A
gnomAD v4:
9-34513165-G-A
COSMIC:
COSM753569
PubMed:
PMID:11231901
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34513165G>A , CM000671.2:g.34513165G>A | GRCh38 |
| NC_000009.11:g.34513163G>A , CM000671.1:g.34513163G>A | GRCh37 |
| NC_000009.10:g.34503163G>A | NCBI36 |
| NG_008127.1:g.59353G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242317.9:c.1543G>A MANE Select | ENSP00000242317.4:p.Gly515Ser | |
| ENST00000242317.8:c.1543G>A | ENSP00000242317.4:p.Gly515Ser | |
| ENST00000442556.1:c.54G>A | ||
| ENST00000470169.5:c.480G>A | ||
| ENST00000485580.1:n.22G>A | ||
| ENST00000614641.4:c.1555G>A | ENSP00000480538.1:p.Gly519Ser | |
| NM_001281428.1:c.1555G>A | NP_001268357.1:p.Gly519Ser | |
| NM_012144.3:c.1543G>A | NP_036276.1:p.Gly515Ser | |
| XM_006716758.2:c.1012G>A | XP_006716821.1:p.Gly338Ser | |
| XM_011517846.1:c.1555G>A | XP_011516148.1:p.Gly519Ser | |
| XM_011517847.1:c.1555G>A | XP_011516149.1:p.Gly519Ser | |
| XM_011517848.1:c.1324-1229G>A | XP_011516150.1:n.1324-1229G>A | |
| XM_011517849.1:c.1555G>A | XP_011516151.1:p.Gly519Ser | |
| XR_929232.1:n.1809G>A | ||
| XR_929233.1:n.1809G>A | ||
| XR_929235.1:n.1578-1339G>A | ||
| XM_006716758.3:c.1012G>A | XP_006716821.1:p.Gly338Ser | |
| XM_011517846.2:c.1555G>A | XP_011516148.1:p.Gly519Ser | |
| XM_011517847.3:c.1555G>A | XP_011516149.1:p.Gly519Ser | |
| XM_011517848.2:c.1324-1229G>A | XP_011516150.1:n.1324-1229G>A | |
| XM_011517849.2:c.1555G>A | XP_011516151.1:p.Gly519Ser | |
| XM_017014625.2:c.1312-1229G>A | XP_016870114.1:n.1312-1229G>A | |
| XR_002956774.1:n.1756G>A | ||
| XR_929232.2:n.1756G>A | ||
| XR_929233.2:n.1756G>A | ||
| NM_012144.4:c.1543G>A MANE Select | NP_036276.1:p.Gly515Ser | |
| NM_001281428.2:c.1555G>A | NP_001268357.1:p.Gly519Ser |