Linked Data
dbSNP Id:
rs371690001
gnomAD v2:
1-9017293-G-A
gnomAD v3:
1-8957234-G-A
gnomAD v4:
1-8957234-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8957234G>A , CM000663.2:g.8957234G>A | GRCh38 |
| NC_000001.10:g.9017293G>A , CM000663.1:g.9017293G>A | GRCh37 |
| NC_000001.9:g.8939880G>A | NCBI36 |
| NG_033975.1:g.16401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377443.7:c.357G>A MANE Select | ENSP00000366662.2:p.Ser119= | |
| ENST00000377436.6:c.357G>A | ENSP00000366654.3:p.Ser119= | |
| ENST00000377442.3:c.177G>A | ENSP00000366661.2:p.Ser59= | |
| ENST00000377443.6:c.357G>A | ENSP00000366662.2:p.Ser119= | |
| ENST00000476083.1:n.99-1676G>A | ||
| ENST00000549778.5:c.261G>A | ENSP00000447108.1:p.Ser87= | |
| NM_001215.3:c.357G>A | NP_001206.2:p.Ser119= | |
| NM_001270500.1:c.357G>A | NP_001257429.1:p.Ser119= | |
| NM_001270501.1:c.177G>A | NP_001257430.1:p.Ser59= | |
| NM_001270502.1:c.25-1676G>A | NP_001257431.1:n.25-1676G>A | |
| XM_011542083.1:c.369G>A | XP_011540385.1:p.Ser123= | |
| XM_011542084.1:c.369G>A | XP_011540386.1:p.Ser123= | |
| XM_011542083.3:c.369G>A | XP_011540385.1:p.Ser123= | |
| XM_011542084.3:c.369G>A | XP_011540386.1:p.Ser123= | |
| NM_001215.4:c.357G>A MANE Select | NP_001206.2:p.Ser119= | |
| NM_001270500.2:c.357G>A | NP_001257429.1:p.Ser119= | |
| NM_001270501.2:c.177G>A | NP_001257430.1:p.Ser59= | |
| NM_001270502.2:c.25-1676G>A | NP_001257431.1:n.25-1676G>A |