Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57563565A>G , CM000682.2:g.57563565A>G | GRCh38 |
| NC_000020.10:g.56138621A>G , CM000682.1:g.56138621A>G | GRCh37 |
| NC_000020.9:g.55572027A>G | NCBI36 |
| NG_008205.1:g.7485A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002591.4:c.799A>G MANE Select | NP_002582.3:p.Ile267Val |
| ENST00000319441.6:c.799A>G MANE Select | ENSP00000319814.4:p.Ile267Val |
| NM_002591.3:c.799A>G | NP_002582.3:p.Ile267Val |
| ENST00000319441.5:c.799A>G | ENSP00000319814.4:p.Ile267Val |
| ENST00000467047.1:n.2486A>G | |
| ENST00000470051.1:n.383A>G | |
| ENST00000498194.1:n.741A>G | |
| XM_011528839.1:c.403A>G | XP_011527141.1:p.Ile135Val |
| XM_024451888.1:c.403A>G | XP_024307656.1:p.Ile135Val |