Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758701T>A , CM000673.2:g.64758701T>A | GRCh38 |
| NC_000011.9:g.64526173T>A , CM000673.1:g.64526173T>A | GRCh37 |
| NC_000011.8:g.64282749T>A | NCBI36 |
| NG_013018.1:g.7015A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.247A>T MANE Select | NP_005600.1:p.Ile83Phe |
| ENST00000164139.4:c.247A>T MANE Select | ENSP00000164139.3:p.Ile83Phe |
| NM_001164716.1:c.244-435A>T | NP_001158188.1:n.244-435A>T |
| NM_005609.2:c.247A>T | NP_005600.1:p.Ile83Phe |
| NM_005609.3:c.247A>T | NP_005600.1:p.Ile83Phe |
| ENST00000164139.3:c.247A>T | ENSP00000164139.3:p.Ile83Phe |
| ENST00000377432.7:c.244-435A>T | ENSP00000366650.3:n.244-435A>T |