Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8014681G>A , CM000679.2:g.8014681G>A | GRCh38 |
| NC_000017.10:g.7917999G>A , CM000679.1:g.7917999G>A | GRCh37 |
| NC_000017.9:g.7858724G>A | NCBI36 |
| NG_009092.1:g.17012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2493G>A MANE Select | ENSP00000254854.4:p.Leu831= | |
| ENST00000254854.4:c.2493G>A | ENSP00000254854.4:p.Leu831= | |
| NM_000180.3:c.2493G>A | NP_000171.1:p.Leu831= | |
| XM_011523816.1:c.2493G>A | XP_011522118.1:p.Leu831= | |
| NM_000180.4:c.2493G>A MANE Select | NP_000171.1:p.Leu831= |