Linked Data
ClinVar Variation Id:
337407
dbSNP Id:
rs189064501
ExAC:
2:88874909 G / T
gnomAD v2:
2-88874909-G-T
gnomAD v3:
2-88575391-G-T
gnomAD v4:
2-88575391-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575391G>T , CM000664.2:g.88575391G>T | GRCh38 |
| NC_000002.11:g.88874909G>T , CM000664.1:g.88874909G>T | GRCh37 |
| NC_000002.10:g.88656024G>T | NCBI36 |
| NG_016424.1:g.57186C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.1920C>A | ||
| ENST00000682276.1:n.1537C>A | ||
| ENST00000682892.1:c.1639C>A | ENSP00000507214.1:p.Arg547Ser | |
| ENST00000682952.1:n.1731C>A | ||
| ENST00000684455.1:c.1305C>A | ||
| ENST00000684642.1:c.1489C>A | ENSP00000507355.1:p.Arg497Ser | |
| ENST00000684740.1:n.2270C>A | ||
| ENST00000303236.9:c.2092C>A MANE Select | ENSP00000307235.3:p.Arg698Ser | |
| ENST00000652099.1:c.2286C>A | ||
| ENST00000652736.1:n.1968C>A | ||
| ENST00000303236.7:c.2092C>A | ENSP00000307235.3:p.Arg698Ser | |
| ENST00000415570.1:c.1729C>A | ENSP00000412076.1:p.Arg577Ser | |
| ENST00000419748.5:c.1639C>A | ENSP00000408325.1:p.Arg547Ser | |
| ENST00000470706.1:n.18C>A | ||
| ENST00000478003.1:n.658C>A | ||
| NM_001313915.1:c.1639C>A | NP_001300844.1:p.Arg547Ser | |
| NM_004836.5:c.2092C>A | NP_004827.4:p.Arg698Ser | |
| NM_004836.6:c.2092C>A | NP_004827.4:p.Arg698Ser | |
| NR_110236.1:n.1528G>T | ||
| XM_005264649.3:c.1408C>A | XP_005264706.1:p.Arg470Ser | |
| XR_939749.1:n.2371C>A | ||
| XM_017005376.2:c.1408C>A | XP_016860865.1:p.Arg470Ser | |
| NM_004836.7:c.2092C>A MANE Select | NP_004827.4:p.Arg698Ser | |
| NM_001313915.2:c.1639C>A | NP_001300844.1:p.Arg547Ser |