Linked Data
ClinVar Variation Id:
2076641
ClinVar RCV Id:
RCV002979388
dbSNP Id:
rs765125271
ExAC:
5:145493815 G / A
gnomAD v2:
5-145493815-G-A
gnomAD v4:
5-146114252-G-A
COSMIC:
COSM3611984
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146114252G>A , CM000667.2:g.146114252G>A | GRCh38 |
| NC_000005.9:g.145493815G>A , CM000667.1:g.145493815G>A | GRCh37 |
| NC_000005.8:g.145474008G>A | NCBI36 |
| NG_042294.1:g.73480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.3385C>T MANE Select | ENSP00000377954.2:p.Pro1129Ser | |
| ENST00000504323.6:n.3815C>T | ||
| ENST00000506231.6:n.6267C>T | ||
| ENST00000674158.1:c.3004C>T | ENSP00000501474.1:p.Pro1002Ser | |
| ENST00000674170.1:c.*1823C>T | ENSP00000501381.1:n.*1823C>T | |
| ENST00000674174.1:c.3223C>T | ENSP00000501434.1:p.Pro1075Ser | |
| ENST00000674181.1:c.1632C>T | ||
| ENST00000674191.1:c.2929C>T | ENSP00000501478.1:p.Pro977Ser | |
| ENST00000674218.1:n.6172C>T | ||
| ENST00000674270.1:c.3247C>T | ENSP00000501365.1:p.Pro1083Ser | |
| ENST00000674277.1:c.3220C>T | ENSP00000501510.1:p.Pro1074Ser | |
| ENST00000674290.1:c.3349C>T | ENSP00000501435.1:p.Pro1117Ser | |
| ENST00000674309.1:c.*741C>T | ENSP00000501400.1:n.*741C>T | |
| ENST00000674310.1:c.*112C>T | ENSP00000501486.1:n.*112C>T | |
| ENST00000674383.1:n.6038C>T | ||
| ENST00000674398.1:c.3382C>T | ENSP00000501476.1:p.Pro1128Ser | |
| ENST00000674447.1:c.3304C>T | ENSP00000501376.1:p.Pro1102Ser | |
| ENST00000674467.1:c.*1307C>T | ENSP00000501351.1:n.*1307C>T | |
| ENST00000674471.1:n.3653C>T | ||
| ENST00000674479.1:n.4422C>T | ||
| ENST00000274562.13:c.1312C>T | ENSP00000274562.10:p.Pro438Ser | |
| ENST00000394434.6:c.3385C>T | ENSP00000377954.2:p.Pro1129Ser | |
| ENST00000506231.5:n.3366C>T | ||
| ENST00000510191.5:c.3223C>T | ENSP00000426005.1:p.Pro1075Ser | |
| NM_020117.9:c.3385C>T | NP_064502.9:p.Pro1129Ser | |
| XM_011537655.1:c.3247C>T | XP_011535957.1:p.Pro1083Ser | |
| XM_011537656.1:c.3223C>T | XP_011535958.1:p.Pro1075Ser | |
| XM_011537657.1:c.3172C>T | XP_011535959.1:p.Pro1058Ser | |
| NM_001317964.1:c.3247C>T | NP_001304893.1:p.Pro1083Ser | |
| NM_001317965.1:c.3223C>T | NP_001304894.1:p.Pro1075Ser | |
| NM_016460.3:c.3304C>T | NP_057544.2:p.Pro1102Ser | |
| NM_020117.10:c.3385C>T | NP_064502.9:p.Pro1129Ser | |
| XM_011537656.3:c.3223C>T | XP_011535958.1:p.Pro1075Ser | |
| NM_020117.11:c.3385C>T MANE Select | NP_064502.9:p.Pro1129Ser | |
| NM_001317964.2:c.3247C>T | NP_001304893.1:p.Pro1083Ser | |
| NM_001317965.2:c.3223C>T | NP_001304894.1:p.Pro1075Ser | |
| NM_016460.4:c.3304C>T | NP_057544.2:p.Pro1102Ser |