Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12778116A= , CM000686.2:g.12778116A= | GRCh38 |
| NC_000024.9:g.14890050A= , CM000686.1:g.14890050A= | GRCh37 |
| NC_000024.8:g.13399444A= | NCBI36 |
| NG_008311.1:g.81891A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.2737A= | ENSP00000498372.1:p.Ile913= | |
| ENST00000338981.7:c.2737A= MANE Select | ENSP00000342812.3:p.Ile913= | |
| ENST00000426564.6:n.2749A= | ||
| NM_004654.3:c.2737A= | NP_004645.2:p.Ile913= | |
| XM_011531469.1:c.2737A= | XP_011529771.1:p.Ile913= | |
| XM_011531470.1:c.2503A= | XP_011529772.1:p.Ile835= | |
| XM_017030078.2:c.2752A= | XP_016885567.1:p.Ile918= | |
| NM_004654.4:c.2737A= MANE Select | NP_004645.2:p.Ile913= |