Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61953049G>A , CM000679.2:g.61953049G>A | GRCh38 |
| NC_000017.10:g.60030410G>A , CM000679.1:g.60030410G>A | GRCh37 |
| NC_000017.9:g.57385192G>A | NCBI36 |
| NG_046948.1:g.117263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397786.7:c.6033C>T MANE Select | ENSP00000380888.2:p.Ile2011= | |
| ENST00000397786.6:c.6033C>T | ENSP00000380888.2:p.Ile2011= | |
| NM_005121.2:c.6033C>T | NP_005112.2:p.Ile2011= | |
| XM_011525551.1:c.5874C>T | XP_011523853.1:p.Ile1958= | |
| XM_011525553.1:c.5364C>T | XP_011523855.1:p.Ile1788= | |
| XM_011525554.1:c.3702C>T | XP_011523856.1:p.Ile1234= | |
| XM_011525551.2:c.5874C>T | XP_011523853.1:p.Ile1958= | |
| XM_011525553.3:c.5364C>T | XP_011523855.1:p.Ile1788= | |
| NM_005121.3:c.6033C>T MANE Select | NP_005112.2:p.Ile2011= |