Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586478C>T , CM000679.2:g.41586478C>T | GRCh38 |
| NC_000017.10:g.39742730C>T , CM000679.1:g.39742730C>T | GRCh37 |
| NC_000017.9:g.36996256C>T | NCBI36 |
| NG_008624.1:g.5418G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.357G>A MANE Select | ENSP00000167586.6:p.Met119Ile | |
| ENST00000167586.6:c.357G>A | ENSP00000167586.6:p.Met119Ile | |
| NM_000526.4:c.357G>A | NP_000517.2:p.Met119Ile | |
| NM_000526.5:c.357G>A MANE Select | NP_000517.3:p.Met119Ile |