Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912560C>T , CM000674.2:g.4912560C>T | GRCh38 |
| NC_000012.11:g.5021726C>T , CM000674.1:g.5021726C>T | GRCh37 |
| NC_000012.10:g.4891987C>T | NCBI36 |
| NG_011815.1:g.7654C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000217.3:c.1182C>T MANE Select | NP_000208.2:p.Ile394= |
| ENST00000382545.5:c.1182C>T MANE Select | ENSP00000371985.3:p.Ile394= |
| NM_000217.2:c.1182C>T | NP_000208.2:p.Ile394= |
| ENST00000382545.3:c.1182C>T | ENSP00000371985.3:p.Ile394= |
| ENST00000541095.1:n.105+2088C>T | |
| ENST00000543874.2:n.96+2088C>T | |
| ENST00000543874.3:n.105+2088C>T | |
| ENST00000639306.1:c.1020C>T | ENSP00000492506.1:p.Ile340= |
| ENST00000639680.1:c.76+294C>T |