Linked Data
ClinVar Variation Id:
243039
ClinVar RCV Id:
RCV000235025
dbSNP Id:
rs764160563
ExAC:
1:985853 G / A
gnomAD v2:
1-985853-G-A
gnomAD v3:
1-1050473-G-A
gnomAD v4:
1-1050473-G-A
PubMed:
PMID:20301347
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1050473G>A , CM000663.2:g.1050473G>A | GRCh38 |
| NC_000001.10:g.985853G>A , CM000663.1:g.985853G>A | GRCh37 |
| NC_000001.9:g.975716G>A | NCBI36 |
| NG_016346.1:g.35351G>A , LRG_198:g.35351G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379370.7:c.5023G>A MANE Select | ENSP00000368678.2:p.Gly1675Ser | |
| ENST00000651234.1:c.4708G>A | ENSP00000499046.1:p.Gly1570Ser | |
| ENST00000652369.1:c.4708G>A | ENSP00000498543.1:p.Gly1570Ser | |
| ENST00000379370.6:c.5023G>A | ENSP00000368678.2:p.Gly1675Ser | |
| ENST00000620552.4:c.4609G>A | ENSP00000484607.1:p.Gly1537Ser | |
| NM_001305275.1:c.5023G>A | NP_001292204.1:p.Gly1675Ser | |
| NM_198576.3:c.5023G>A | NP_940978.2:p.Gly1675Ser | |
| XM_005244749.2:c.5023G>A | XP_005244806.1:p.Gly1675Ser | |
| XM_006710635.2:c.5023G>A | XP_006710698.1:p.Gly1675Ser | |
| XM_011541429.1:c.5023G>A | XP_011539731.1:p.Gly1675Ser | |
| XM_011541430.1:c.4150G>A | XP_011539732.1:p.Gly1384Ser | |
| XM_011541431.1:c.3289G>A | XP_011539733.1:p.Gly1097Ser | |
| XR_946650.1:n.5090G>A | ||
| NM_001364727.1:c.4708G>A | NP_001351656.1:p.Gly1570Ser | |
| XM_005244749.3:c.5023G>A | XP_005244806.1:p.Gly1675Ser | |
| XM_011541429.2:c.5023G>A | XP_011539731.1:p.Gly1675Ser | |
| XR_946650.2:n.5094G>A | ||
| NM_001305275.2:c.5023G>A | NP_001292204.1:p.Gly1675Ser | |
| NM_198576.4:c.5023G>A MANE Select | NP_940978.2:p.Gly1675Ser | |
| NM_001364727.2:c.4708G>A | NP_001351656.1:p.Gly1570Ser |