Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111103810A>G , CM000667.2:g.111103810A>G | GRCh38 |
| NC_000005.9:g.110439509A>G , CM000667.1:g.110439509A>G | GRCh37 |
| NC_000005.8:g.110467408A>G | NCBI36 |
| NG_008979.1:g.16640A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139281.3:c.622A>G MANE Select | NP_644810.2:p.Ile208Val |
| ENST00000513710.4:c.622A>G MANE Select | ENSP00000424628.3:p.Ile208Val |
| NM_139281.2:c.790A>G | NP_644810.1:p.Ile264Val |
| ENST00000504122.2:n.504A>G | |
| ENST00000505303.5:n.758A>G | |
| ENST00000506538.6:c.790A>G | ENSP00000423067.2:p.Ile264Val |
| ENST00000513710.3:c.622A>G | ENSP00000424628.3:p.Ile208Val |
| ENST00000612402.4:c.790A>G | ENSP00000479950.1:p.Ile264Val |
| XM_011543163.1:c.790A>G | XP_011541465.1:p.Ile264Val |