Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912068C= , CM000674.2:g.4912068C= | GRCh38 |
| NC_000012.11:g.5021234C= , CM000674.1:g.5021234C= | GRCh37 |
| NC_000012.10:g.4891495C= | NCBI36 |
| NG_011815.1:g.7162C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.690C= MANE Select | ENSP00000371985.3:p.Ile230= | |
| ENST00000543874.3:n.105+1596C= | ||
| ENST00000639306.1:c.528C= | ENSP00000492506.1:p.Ile176= | |
| ENST00000382545.3:c.690C= | ENSP00000371985.3:p.Ile230= | |
| ENST00000541095.1:n.105+1596C= | ||
| ENST00000543874.2:n.96+1596C= | ||
| NM_000217.2:c.690C= | NP_000208.2:p.Ile230= | |
| NM_000217.3:c.690C= MANE Select | NP_000208.2:p.Ile230= |