Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.69301173G>A , CM000679.2:g.69301173G>A | GRCh38 |
| NC_000017.10:g.67297314G>A , CM000679.1:g.67297314G>A | GRCh37 |
| NC_000017.9:g.64808909G>A | NCBI36 |
| NG_034199.1:g.31010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392676.8:c.1233C>T MANE Select | ENSP00000376443.2:p.Val411= | |
| ENST00000392676.7:c.1233C>T | ENSP00000376443.2:p.Val411= | |
| ENST00000586995.5:c.246C>T | ENSP00000467251.1:p.Val82= | |
| ENST00000588877.5:c.1233C>T | ENSP00000467882.1:p.Val411= | |
| ENST00000593153.5:c.1233C>T | ENSP00000467448.1:p.Val411= | |
| NM_018672.4:c.1233C>T | NP_061142.2:p.Val411= | |
| NM_172232.3:c.1233C>T | NP_758424.1:p.Val411= | |
| NM_172232.4:c.1233C>T MANE Select | NP_758424.1:p.Val411= | |
| NM_018672.5:c.1233C>T | NP_061142.2:p.Val411= |