Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169514402T>C , CM000663.2:g.169514402T>C | GRCh38 |
| NC_000001.10:g.169483640T>C , CM000663.1:g.169483640T>C | GRCh37 |
| NC_000001.9:g.167750264T>C | NCBI36 |
| NG_011806.1:g.77130A>G , LRG_553:g.77130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.6586A>G MANE Select | ENSP00000356771.3:p.Ile2196Val | |
| ENST00000367796.3:c.6601A>G | ENSP00000356770.3:p.Ile2201Val | |
| ENST00000367797.7:c.6586A>G | ENSP00000356771.3:p.Ile2196Val | |
| ENST00000495481.1:n.360A>G | ||
| NM_000130.4:c.6586A>G , LRG_553t1:c.6586A>G | NP_000121.2:p.Ile2196Val | |
| XM_017000660.2:c.6175A>G | XP_016856149.1:p.Ile2059Val | |
| NM_000130.5:c.6586A>G MANE Select | NP_000121.2:p.Ile2196Val |