Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197705944C>T , CM000664.2:g.197705944C>T | GRCh38 |
| NC_000002.11:g.198570668C>T , CM000664.1:g.198570668C>T | GRCh37 |
| NC_000002.10:g.198278913C>T | NCBI36 |
| NG_034122.1:g.5641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282276.8:c.539C>T MANE Select | ENSP00000282276.6:p.Ala180Val | |
| ENST00000282276.7:c.539C>T | ENSP00000282276.6:p.Ala180Val | |
| NM_138395.3:c.539C>T | NP_612404.1:p.Ala180Val | |
| NM_138395.4:c.539C>T MANE Select | NP_612404.1:p.Ala180Val |