Linked Data
ClinVar Variation Id:
662916
ClinVar RCV Id:
RCV000820665
dbSNP Id:
rs551814194
ExAC:
8:145741241 A / G
gnomAD v2:
8-145741241-A-G
gnomAD v3:
8-144515857-A-G
gnomAD v4:
8-144515857-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144515857A>G , CM000670.2:g.144515857A>G | GRCh38 |
| NC_000008.10:g.145741241A>G , CM000670.1:g.145741241A>G | GRCh37 |
| NC_000008.9:g.145712049A>G | NCBI36 |
| NG_016430.1:g.6970T>C | |
| NG_033083.1:g.2893A>G | |
| NG_016430.2:g.6970T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.1165T>C MANE Select | ENSP00000482313.2:p.Cys389Arg | |
| ENST00000532846.2:c.50T>C | ||
| ENST00000617875.4:c.1165T>C | ENSP00000482313.1:p.Cys389Arg | |
| ENST00000621189.4:c.94T>C | ENSP00000483145.1:p.Cys32Arg | |
| NM_004260.3:c.1165T>C | NP_004251.3:p.Cys389Arg | |
| XM_011517380.1:c.1165T>C | XP_011515682.1:p.Cys389Arg | |
| XM_011517381.1:c.1069T>C | XP_011515683.1:p.Cys357Arg | |
| XM_011517382.1:c.1165T>C | XP_011515684.1:p.Cys389Arg | |
| XM_011517383.1:c.1165T>C | XP_011515685.1:p.Cys389Arg | |
| XM_011517384.1:c.1165T>C | XP_011515686.1:p.Cys389Arg | |
| XM_011517385.1:c.32T>C | XP_011515687.1:p.Val11Ala | |
| XR_928366.1:n.1206T>C | ||
| XR_928367.1:n.1206T>C | ||
| XR_928368.1:n.1208T>C | ||
| XM_011517384.3:c.1165T>C | XP_011515686.1:p.Cys389Arg | |
| XM_017013991.2:c.1165T>C | XP_016869480.1:p.Cys389Arg | |
| XM_017013992.2:c.1165T>C | XP_016869481.1:p.Cys389Arg | |
| XM_017013993.2:c.1165T>C | XP_016869482.1:p.Cys389Arg | |
| XM_017013994.2:c.1069T>C | XP_016869483.1:p.Cys357Arg | |
| XM_017013995.2:c.1165T>C | XP_016869484.1:p.Cys389Arg | |
| XM_017013996.2:c.1165T>C | XP_016869485.1:p.Cys389Arg | |
| XM_017013997.2:c.1165T>C | XP_016869486.1:p.Cys389Arg | |
| XM_017013998.1:c.1165T>C | XP_016869487.1:p.Cys389Arg | |
| XM_017013999.2:c.1165T>C | XP_016869488.1:p.Cys389Arg | |
| XM_017014000.1:c.32T>C | XP_016869489.1:p.Val11Ala | |
| XM_017014001.2:c.32T>C | XP_016869490.1:p.Val11Ala | |
| XR_001745626.2:n.1202T>C | ||
| XR_001745627.2:n.1202T>C | ||
| XR_001745628.2:n.1202T>C | ||
| XR_001745629.2:n.1202T>C | ||
| XR_001745630.2:n.1202T>C | ||
| NM_004260.4:c.1165T>C MANE Select | NP_004251.4:p.Cys389Arg |