Linked Data
ClinVar Variation Id:
390055
dbSNP Id:
rs199851177
ExAC:
9:101498824 G / A
gnomAD v2:
9-101498824-G-A
gnomAD v3:
9-98736542-G-A
gnomAD v4:
9-98736542-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98736542G>A , CM000671.2:g.98736542G>A | GRCh38 |
| NC_000009.11:g.101498824G>A , CM000671.1:g.101498824G>A | GRCh37 |
| NC_000009.10:g.100538645G>A | NCBI36 |
| NG_042237.1:g.65001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353234.5:c.2593C>T MANE Select | ENSP00000297837.6:p.Pro865Ser | |
| ENST00000353234.4:c.2593C>T | ENSP00000297837.6:p.Pro865Ser | |
| ENST00000375019.6:c.1690C>T | ENSP00000364159.2:p.Pro564Ser | |
| ENST00000444472.5:c.1001C>T | ||
| ENST00000634393.1:n.1728C>T | ||
| NM_173551.3:c.2593C>T | NP_775822.3:p.Pro865Ser | |
| NM_173551.4:c.2593C>T | NP_775822.3:p.Pro865Ser | |
| XM_005251793.3:c.2596C>T | XP_005251850.1:p.Pro866Ser | |
| XM_005251794.3:c.2593C>T | XP_005251851.1:p.Pro865Ser | |
| XM_006716998.2:c.2596C>T | XP_006717061.1:p.Pro866Ser | |
| XM_006716999.2:c.2422C>T | XP_006717062.1:p.Pro808Ser | |
| XM_011518357.1:c.1606C>T | XP_011516659.1:p.Pro536Ser | |
| XR_242576.3:n.2631C>T | ||
| XR_428520.2:n.2635C>T | ||
| XR_929736.1:n.2635C>T | ||
| XR_929737.1:n.1733C>T | ||
| XM_005251793.4:c.2596C>T | XP_005251850.1:p.Pro866Ser | |
| XM_005251794.4:c.2593C>T | XP_005251851.1:p.Pro865Ser | |
| XM_006716998.3:c.2596C>T | XP_006717061.1:p.Pro866Ser | |
| XM_006716999.3:c.2422C>T | XP_006717062.1:p.Pro808Ser | |
| XM_017014445.1:c.2593C>T | XP_016869934.1:p.Pro865Ser | |
| XM_017014447.1:c.1345C>T | XP_016869936.1:p.Pro449Ser | |
| XM_024447445.1:c.2314C>T | XP_024303213.1:p.Pro772Ser | |
| XM_024447447.1:c.2011C>T | XP_024303215.1:p.Pro671Ser | |
| XR_001746230.1:n.1698C>T | ||
| XR_428520.3:n.2634C>T | ||
| XR_929736.2:n.2634C>T | ||
| NM_173551.5:c.2593C>T MANE Select | NP_775822.3:p.Pro865Ser |