Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854657C>T , CM000671.2:g.97854657C>T | GRCh38 |
| NC_000009.11:g.100616939C>T , CM000671.1:g.100616939C>T | GRCh37 |
| NC_000009.10:g.99656760C>T | NCBI36 |
| NG_011979.1:g.6403C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004473.4:c.743C>T MANE Select | NP_004464.2:p.Ala248Val |
| ENST00000375123.5:c.743C>T MANE Select | ENSP00000364265.3:p.Ala248Val |
| NM_004473.3:c.743C>T | NP_004464.2:p.Ala248Val |
| ENST00000375123.4:c.743C>T | ENSP00000364265.3:p.Ala248Val |