Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131950057C>T , CM000668.2:g.131950057C>T | GRCh38 |
| NC_000006.11:g.132271197C>T , CM000668.1:g.132271197C>T | GRCh37 |
| NC_000006.10:g.132312890C>T | NCBI36 |
| NG_016131.1:g.6322G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367976.4:c.645G>A MANE Select | ENSP00000356954.3:p.Met215Ile | |
| ENST00000367976.3:c.645G>A | ENSP00000356954.3:p.Met215Ile | |
| NM_001901.2:c.645G>A | NP_001892.1:p.Met215Ile | |
| NM_001901.3:c.645G>A | NP_001892.1:p.Met215Ile | |
| NM_001901.4:c.645G>A MANE Select | NP_001892.2:p.Met215Ile |