Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40176506G>C , CM000677.2:g.40176506G>C | GRCh38 |
| NC_000015.9:g.40468707G>C , CM000677.1:g.40468707G>C | GRCh37 |
| NC_000015.8:g.38255999G>C | NCBI36 |
| NG_016338.1:g.20498G>C , LRG_489:g.20498G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.414G>C MANE Select | NP_001202.5:p.Met138Ile |
| ENST00000287598.11:c.414G>C MANE Select | ENSP00000287598.7:p.Met138Ile |
| NM_001211.5:c.414G>C , LRG_489t1:c.414G>C | NP_001202.4:p.Met138Ile |
| ENST00000287598.10:c.414G>C | ENSP00000287598.6:p.Met138Ile |
| ENST00000412359.7:c.456G>C | ENSP00000398470.3:p.Met152Ile |
| ENST00000559414.5:n.482G>C | |
| ENST00000560120.5:n.468G>C | |
| XR_001751506.1:n.392-2022C>G |