Linked Data
ClinVar Variation Id:
262848
dbSNP Id:
rs79414550
ExAC:
9:101518825 G / C
gnomAD v2:
9-101518825-G-C
gnomAD v3:
9-98756543-G-C
gnomAD v4:
9-98756543-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98756543G>C , CM000671.2:g.98756543G>C | GRCh38 |
| NC_000009.11:g.101518825G>C , CM000671.1:g.101518825G>C | GRCh37 |
| NC_000009.10:g.100558646G>C | NCBI36 |
| NG_042237.1:g.45000C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353234.5:c.2203C>G MANE Select | ENSP00000297837.6:p.Pro735Ala | |
| ENST00000353234.4:c.2203C>G | ENSP00000297837.6:p.Pro735Ala | |
| ENST00000375019.6:c.1300C>G | ENSP00000364159.2:p.Pro434Ala | |
| ENST00000444472.5:c.611C>G | ||
| ENST00000634393.1:n.1303C>G | ||
| NM_173551.3:c.2203C>G | NP_775822.3:p.Pro735Ala | |
| NM_173551.4:c.2203C>G | NP_775822.3:p.Pro735Ala | |
| XM_005251793.3:c.2206C>G | XP_005251850.1:p.Pro736Ala | |
| XM_005251794.3:c.2203C>G | XP_005251851.1:p.Pro735Ala | |
| XM_006716998.2:c.2206C>G | XP_006717061.1:p.Pro736Ala | |
| XM_006716999.2:c.2032C>G | XP_006717062.1:p.Pro678Ala | |
| XM_011518356.1:c.2206C>G | XP_011516658.1:p.Pro736Ala | |
| XM_011518357.1:c.1216C>G | XP_011516659.1:p.Pro406Ala | |
| XR_242576.3:n.2241C>G | ||
| XR_428520.2:n.2245C>G | ||
| XR_929736.1:n.2245C>G | ||
| XR_929737.1:n.1308C>G | ||
| XM_005251793.4:c.2206C>G | XP_005251850.1:p.Pro736Ala | |
| XM_005251794.4:c.2203C>G | XP_005251851.1:p.Pro735Ala | |
| XM_006716998.3:c.2206C>G | XP_006717061.1:p.Pro736Ala | |
| XM_006716999.3:c.2032C>G | XP_006717062.1:p.Pro678Ala | |
| XM_017014445.1:c.2203C>G | XP_016869934.1:p.Pro735Ala | |
| XM_017014447.1:c.955C>G | XP_016869936.1:p.Pro319Ala | |
| XM_024447445.1:c.1924C>G | XP_024303213.1:p.Pro642Ala | |
| XM_024447447.1:c.1621C>G | XP_024303215.1:p.Pro541Ala | |
| XR_001746230.1:n.1308C>G | ||
| XR_428520.3:n.2244C>G | ||
| XR_929736.2:n.2244C>G | ||
| NM_173551.5:c.2203C>G MANE Select | NP_775822.3:p.Pro735Ala |