Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912066A= , CM000674.2:g.4912066A= | GRCh38 |
| NC_000012.11:g.5021232A= , CM000674.1:g.5021232A= | GRCh37 |
| NC_000012.10:g.4891493A= | NCBI36 |
| NG_011815.1:g.7160A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.688A= MANE Select | ENSP00000371985.3:p.Ile230= | |
| ENST00000543874.3:n.105+1594A= | ||
| ENST00000639306.1:c.526A= | ENSP00000492506.1:p.Ile176= | |
| ENST00000382545.3:c.688A= | ENSP00000371985.3:p.Ile230= | |
| ENST00000541095.1:n.105+1594A= | ||
| ENST00000543874.2:n.96+1594A= | ||
| NM_000217.2:c.688A= | NP_000208.2:p.Ile230= | |
| NM_000217.3:c.688A= MANE Select | NP_000208.2:p.Ile230= |