Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912055C>G , CM000674.2:g.4912055C>G | GRCh38 |
| NC_000012.11:g.5021221C>G , CM000674.1:g.5021221C>G | GRCh37 |
| NC_000012.10:g.4891482C>G | NCBI36 |
| NG_011815.1:g.7149C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.677C>G MANE Select | ENSP00000371985.3:p.Thr226Arg | |
| ENST00000543874.3:n.105+1583C>G | ||
| ENST00000639306.1:c.515C>G | ENSP00000492506.1:p.Thr172Arg | |
| ENST00000382545.3:c.677C>G | ENSP00000371985.3:p.Thr226Arg | |
| ENST00000541095.1:n.105+1583C>G | ||
| ENST00000543874.2:n.96+1583C>G | ||
| NM_000217.2:c.677C>G | NP_000208.2:p.Thr226Arg | |
| NM_000217.3:c.677C>G MANE Select | NP_000208.2:p.Thr226Arg |