Linked Data
ClinVar Variation Id:
3147821
ClinVar RCV Id:
RCV004437654
dbSNP Id:
rs1197196296
gnomAD v2:
1-36563472-C-T
gnomAD v4:
1-36097871-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36097871C>T , CM000663.2:g.36097871C>T | GRCh38 |
| NC_000001.10:g.36563472C>T , CM000663.1:g.36563472C>T | GRCh37 |
| NC_000001.9:g.36336059C>T | NCBI36 |
| NG_016245.2:g.32214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397799.2:c.1810G>A MANE Select | ENSP00000380901.1:p.Gly604Ser | |
| ENST00000303143.9:c.1810G>A | ENSP00000305913.4:p.Gly604Ser | |
| ENST00000397799.1:c.1810G>A | ENSP00000380901.1:p.Gly604Ser | |
| ENST00000481785.1:c.1615G>A | ENSP00000436433.1:p.Gly539Ser | |
| ENST00000615990.1:c.982G>A | ENSP00000484406.1:p.Gly328Ser | |
| NM_001294347.1:c.1615G>A | NP_001281276.1:p.Gly539Ser | |
| NM_005202.3:c.1810G>A | NP_005193.1:p.Gly604Ser | |
| XM_005270477.2:c.2041G>A | XP_005270534.1:p.Gly681Ser | |
| XM_005270477.3:c.2041G>A | XP_005270534.1:p.Gly681Ser | |
| NM_005202.4:c.1810G>A MANE Select | NP_005193.1:p.Gly604Ser | |
| NM_001294347.2:c.1615G>A | NP_001281276.1:p.Gly539Ser |