Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89349425C>T , CM000674.2:g.89349425C>T | GRCh38 |
| NC_000012.11:g.89743202C>T , CM000674.1:g.89743202C>T | GRCh37 |
| NC_000012.10:g.88267333C>T | NCBI36 |
| NG_033915.1:g.8435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279488.8:c.975G>A MANE Select | ENSP00000279488.6:p.Met325Ile | |
| ENST00000279488.7:c.975G>A | ENSP00000279488.6:p.Met325Ile | |
| ENST00000308385.6:c.537G>A | ENSP00000307835.6:p.Met179Ile | |
| ENST00000547291.1:c.600G>A | ENSP00000449838.1:p.Met200Ile | |
| NM_001946.3:c.975G>A | NP_001937.2:p.Met325Ile | |
| NM_022652.3:c.537G>A | NP_073143.2:p.Met179Ile | |
| NM_001946.4:c.975G>A MANE Select | NP_001937.2:p.Met325Ile | |
| NM_022652.4:c.537G>A | NP_073143.2:p.Met179Ile |