Linked Data
ClinVar Variation Id:
2712338
dbSNP Id:
rs1126767
gnomAD v2:
1-32741519-G-A
gnomAD v3:
1-32275918-G-A
gnomAD v4:
1-32275918-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32275918G>A , CM000663.2:g.32275918G>A | GRCh38 |
| NC_000001.10:g.32741519G>A , CM000663.1:g.32741519G>A | GRCh37 |
| NC_000001.9:g.32514106G>A | NCBI36 |
| NG_023387.1:g.29680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355928.8:n.1009G>A | ||
| ENST00000482949.6:c.660G>A | ENSP00000431517.2:p.Ser220= | |
| ENST00000495610.7:c.486G>A | ENSP00000435605.2:p.Ser162= | |
| ENST00000696990.1:c.*176G>A | ENSP00000513026.1:n.*176G>A | |
| ENST00000696991.1:c.115-31G>A | ||
| ENST00000336890.10:c.486G>A MANE Select | ENSP00000337825.5:p.Ser162= | |
| ENST00000333070.4:c.486G>A | ENSP00000328213.4:p.Ser162= | |
| ENST00000336890.9:c.486G>A | ENSP00000337825.5:p.Ser162= | |
| ENST00000373557.6:c.618G>A | ENSP00000362658.2:p.Ser206= | |
| ENST00000373564.7:c.660G>A | ENSP00000362665.3:p.Ser220= | |
| ENST00000469765.5:n.545G>A | ||
| ENST00000469956.1:n.58G>A | ||
| ENST00000495610.6:c.486G>A | ENSP00000435605.1:p.Ser162= | |
| ENST00000619559.4:c.486G>A | ENSP00000477713.1:p.Ser162= | |
| NM_001042771.2:c.486G>A | NP_001036236.1:p.Ser162= | |
| NM_005356.4:c.486G>A | NP_005347.3:p.Ser162= | |
| XM_011541453.1:c.660G>A | XP_011539755.1:p.Ser220= | |
| XM_011541454.1:c.660G>A | XP_011539756.1:p.Ser220= | |
| XM_011541455.1:c.486G>A | XP_011539757.1:p.Ser162= | |
| NM_001330468.1:c.486G>A | NP_001317397.1:p.Ser162= | |
| XM_011541453.3:c.660G>A | XP_011539755.1:p.Ser220= | |
| XM_024447046.1:c.660G>A | XP_024302814.1:p.Ser220= | |
| XM_024447047.1:c.660G>A | XP_024302815.1:p.Ser220= | |
| NM_005356.5:c.486G>A MANE Select | NP_005347.3:p.Ser162= | |
| NM_001330468.2:c.486G>A | NP_001317397.1:p.Ser162= | |
| NM_001042771.3:c.486G>A | NP_001036236.1:p.Ser162= |