Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447605C>T , CM000668.2:g.121447605C>T | GRCh38 |
| NC_000006.11:g.121768751C>T , CM000668.1:g.121768751C>T | GRCh37 |
| NC_000006.10:g.121810450C>T | NCBI36 |
| NG_008308.1:g.17007C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000165.5:c.758C>T MANE Select | NP_000156.1:p.Ala253Val |
| ENST00000282561.4:c.758C>T MANE Select | ENSP00000282561.3:p.Ala253Val |
| NM_000165.4:c.758C>T | NP_000156.1:p.Ala253Val |
| ENST00000282561.3:c.758C>T | ENSP00000282561.3:p.Ala253Val |
| ENST00000647564.1:c.758C>T | ENSP00000497565.1:p.Ala253Val |
| ENST00000649003.1:c.758C>T | ENSP00000497283.1:p.Ala253Val |
| ENST00000650427.1:c.758C>T | ENSP00000497367.1:p.Ala253Val |