Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111103810A= , CM000667.2:g.111103810A= | GRCh38 |
| NC_000005.9:g.110439509A= , CM000667.1:g.110439509A= | GRCh37 |
| NC_000005.8:g.110467408A= | NCBI36 |
| NG_008979.1:g.16640A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139281.3:c.622A= MANE Select | NP_644810.2:p.Ile208= |
| ENST00000513710.4:c.622A= MANE Select | ENSP00000424628.3:p.Ile208= |
| NM_139281.2:c.790A= | NP_644810.1:p.Ile264= |
| ENST00000504122.2:n.504A= | |
| ENST00000505303.5:n.758A= | |
| ENST00000506538.6:c.790A= | ENSP00000423067.2:p.Ile264= |
| ENST00000513710.3:c.622A= | ENSP00000424628.3:p.Ile208= |
| ENST00000612402.4:c.790A= | ENSP00000479950.1:p.Ile264= |
| XM_011543163.1:c.790A= | XP_011541465.1:p.Ile264= |