Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408188A= , CM000671.2:g.134408188A= | GRCh38 |
| NC_000009.11:g.137300034A= , CM000671.1:g.137300034A= | GRCh37 |
| NC_000009.10:g.136439855A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.319A= MANE Select | ENSP00000419692.1:p.Ile107= | |
| ENST00000672570.1:c.238A= | ENSP00000500402.1:p.Ile80= | |
| ENST00000356384.4:n.729A= | ||
| ENST00000481739.1:c.319A= | ENSP00000419692.1:p.Ile107= | |
| NM_001291920.1:c.238A= | NP_001278849.1:p.Ile80= | |
| NM_001291921.1:c.28A= | NP_001278850.1:p.Ile10= | |
| NM_002957.5:c.319A= | NP_002948.1:p.Ile107= | |
| NM_002957.6:c.319A= MANE Select | NP_002948.1:p.Ile107= | |
| NM_001291921.2:c.28A= | NP_001278850.1:p.Ile10= | |
| NM_001291920.2:c.238A= | NP_001278849.1:p.Ile80= |