ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218405213C>T , CM000663.2:g.218405213C>T | GRCh38 |
| NC_000001.10:g.218578555C>T , CM000663.1:g.218578555C>T | GRCh37 |
| NC_000001.9:g.216645178C>T | NCBI36 |
| NG_027721.1:g.64880C>T | |
| NG_027721.2:g.64880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.391C>T MANE Select | ENSP00000355897.4:p.Arg131Ter | |
| ENST00000366929.4:c.475C>T | ENSP00000355896.4:p.Arg159Ter | |
| ENST00000366930.8:c.391C>T | ENSP00000355897.4:p.Arg131Ter | |
| ENST00000488793.1:n.55C>T | ||
| NM_001135599.2:c.475C>T | NP_001129071.1:p.Arg159Ter | |
| NM_003238.3:c.391C>T | NP_003229.1:p.Arg131Ter | |
| NM_001135599.3:c.475C>T | NP_001129071.1:p.Arg159Ter | |
| NM_003238.4:c.391C>T | NP_003229.1:p.Arg131Ter | |
| NR_138148.1:n.1809C>T | ||
| NR_138149.1:n.1893C>T | ||
| NM_003238.5:c.391C>T | NP_003229.1:p.Arg131Ter | |
| NM_003238.6:c.391C>T MANE Select | NP_003229.1:p.Arg131Ter | |
| NM_001135599.4:c.475C>T | NP_001129071.1:p.Arg159Ter | |
| NR_138148.2:n.1757C>T | ||
| NR_138149.2:n.1841C>T |