Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6778280A>T , CM000674.2:g.6778280A>T | GRCh38 |
| NC_000012.11:g.6887446A>T , CM000674.1:g.6887446A>T | GRCh37 |
| NC_000012.10:g.6757707A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002286.6:c.1468A>T MANE Select | NP_002277.4:p.Ile490Phe |
| ENST00000203629.3:c.1468A>T MANE Select | ENSP00000203629.2:p.Ile490Phe |
| NM_002286.5:c.1468A>T | NP_002277.4:p.Ile490Phe |
| ENST00000203629.2:c.1468A>T | ENSP00000203629.2:p.Ile490Phe |
| ENST00000538079.1:n.2412A>T | |
| ENST00000541049.1:n.509A>T | |
| XM_011520956.1:c.1225A>T | XP_011519258.1:p.Ile409Phe |