Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64752486T>C , CM000673.2:g.64752486T>C | GRCh38 |
| NC_000011.9:g.64519958T>C , CM000673.1:g.64519958T>C | GRCh37 |
| NC_000011.8:g.64276534T>C | NCBI36 |
| NG_013018.1:g.13230A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.1537A>G MANE Select | NP_005600.1:p.Ile513Val |
| ENST00000164139.4:c.1537A>G MANE Select | ENSP00000164139.3:p.Ile513Val |
| NM_001164716.1:c.1273A>G | NP_001158188.1:p.Ile425Val |
| NM_005609.2:c.1537A>G | NP_005600.1:p.Ile513Val |
| NM_005609.3:c.1537A>G | NP_005600.1:p.Ile513Val |
| ENST00000164139.3:c.1537A>G | ENSP00000164139.3:p.Ile513Val |
| ENST00000377432.7:c.1273A>G | ENSP00000366650.3:p.Ile425Val |