Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031922T>G , CM000664.2:g.61031922T>G | GRCh38 |
| NC_000002.11:g.61259057T>G , CM000664.1:g.61259057T>G | GRCh37 |
| NC_000002.10:g.61112561T>G | NCBI36 |
| NG_008665.1:g.19246T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.596T>G MANE Select | NP_002609.1:p.Leu199Ter |
| ENST00000295030.6:c.596T>G MANE Select | ENSP00000295030.4:p.Leu199Ter |
| NM_002618.3:c.596T>G | NP_002609.1:p.Leu199Ter |
| ENST00000295030.5:c.596T>G | ENSP00000295030.4:p.Leu199Ter |
| XM_011532904.1:c.479T>G | XP_011531206.1:p.Leu160Ter |