Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.107283642C>G , CM000671.2:g.107283642C>G | GRCh38 |
| NC_000009.11:g.110045923C>G , CM000671.1:g.110045923C>G | GRCh37 |
| NC_000009.10:g.109085744C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358015.8:c.13C>G MANE Select | ENSP00000350708.3:p.Leu5Val | |
| ENST00000358015.7:c.13C>G | ENSP00000350708.3:p.Leu5Val | |
| ENST00000419616.5:c.13C>G | ENSP00000416868.1:p.Leu5Val | |
| NM_002874.4:c.13C>G | NP_002865.1:p.Leu5Val | |
| NM_002874.5:c.13C>G MANE Select | NP_002865.1:p.Leu5Val |