Linked Data
ClinVar Variation Id:
473317
dbSNP Id:
rs148620369
ExAC:
6:5545427 C / T
gnomAD v2:
6-5545427-C-T
gnomAD v3:
6-5545194-C-T
gnomAD v4:
6-5545194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.5545194C>T , CM000668.2:g.5545194C>T | GRCh38 |
| NC_000006.11:g.5545427C>T , CM000668.1:g.5545427C>T | GRCh37 |
| NC_000006.10:g.5490426C>T | NCBI36 |
| NG_033003.1:g.288844C>T | |
| NG_033003.2:g.288844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274680.9:c.919C>T MANE Select | ENSP00000274680.4:p.Arg307Ter | |
| ENST00000648580.1:c.919C>T | ENSP00000497889.1:p.Arg307Ter | |
| ENST00000274680.8:c.919C>T | ENSP00000274680.3:p.Arg307Ter | |
| ENST00000324331.10:c.919C>T | ENSP00000316335.5:p.Arg307Ter | |
| NM_006567.3:c.919C>T | NP_006558.1:p.Arg307Ter | |
| XM_005248811.1:c.919C>T | XP_005248868.1:p.Arg307Ter | |
| XM_005248812.2:c.919C>T | XP_005248869.1:p.Arg307Ter | |
| XM_011514247.1:c.919C>T | XP_011512549.1:p.Arg307Ter | |
| XM_011514248.1:c.919C>T | XP_011512550.1:p.Arg307Ter | |
| XM_011514249.1:c.919C>T | XP_011512551.1:p.Arg307Ter | |
| XR_926026.1:n.1893C>T | ||
| XR_926027.1:n.1761C>T | ||
| XR_926028.1:n.1382C>T | ||
| NM_001318872.1:c.919C>T | NP_001305801.1:p.Arg307Ter | |
| NM_006567.4:c.919C>T | NP_006558.1:p.Arg307Ter | |
| XM_005248812.3:c.919C>T | XP_005248869.1:p.Arg307Ter | |
| XM_011514247.3:c.919C>T | XP_011512549.1:p.Arg307Ter | |
| XM_011514248.3:c.919C>T | XP_011512550.1:p.Arg307Ter | |
| XM_011514249.2:c.919C>T | XP_011512551.1:p.Arg307Ter | |
| XM_017010186.1:c.919C>T | XP_016865675.1:p.Arg307Ter | |
| XM_017010187.1:c.919C>T | XP_016865676.1:p.Arg307Ter | |
| XR_926027.3:n.1738C>T | ||
| XR_926028.2:n.1359C>T | ||
| NM_001318872.2:c.919C>T | NP_001305801.1:p.Arg307Ter | |
| NM_001374875.1:c.919C>T | NP_001361804.1:p.Arg307Ter | |
| NM_001374876.1:c.919C>T | NP_001361805.1:p.Arg307Ter | |
| NM_001374877.1:c.919C>T | NP_001361806.1:p.Arg307Ter | |
| NM_001374878.1:c.919C>T | NP_001361807.1:p.Arg307Ter | |
| NM_001374879.1:c.919C>T | NP_001361808.1:p.Arg307Ter | |
| NM_001375257.1:c.919C>T | NP_001362186.1:p.Arg307Ter | |
| NM_001375258.1:c.787C>T | NP_001362187.1:p.Arg263Ter | |
| NM_001375259.1:c.223C>T | NP_001362188.1:p.Arg75Ter | |
| NM_001375260.1:c.223C>T | NP_001362189.1:p.Arg75Ter | |
| NM_006567.5:c.919C>T MANE Select | NP_006558.1:p.Arg307Ter |