Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40165131G>C , CM000677.2:g.40165131G>C | GRCh38 |
| NC_000015.9:g.40457332G>C , CM000677.1:g.40457332G>C | GRCh37 |
| NC_000015.8:g.38244624G>C | NCBI36 |
| NG_016338.1:g.9123G>C , LRG_489:g.9123G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.114G>C MANE Select | NP_001202.5:p.Met38Ile |
| ENST00000287598.11:c.114G>C MANE Select | ENSP00000287598.7:p.Met38Ile |
| NM_001211.5:c.114G>C , LRG_489t1:c.114G>C | NP_001202.4:p.Met38Ile |
| ENST00000287598.10:c.114G>C | ENSP00000287598.6:p.Met38Ile |
| ENST00000412359.7:c.114G>C | ENSP00000398470.3:p.Met38Ile |
| ENST00000558715.5:c.114G>C | ENSP00000453861.1:p.Met38Ile |
| ENST00000559414.5:n.292G>C | |
| ENST00000560120.5:n.233+3876G>C |