Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77250556T>G , CM000680.2:g.77250556T>G | GRCh38 |
| NC_000018.9:g.74962512T>G , CM000680.1:g.74962512T>G | GRCh37 |
| NC_000018.8:g.73091500T>G | NCBI36 |
| NG_009223.1:g.5505T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001480.4:c.8T>G MANE Select | NP_001471.2:p.Leu3Arg |
| ENST00000299727.5:c.8T>G MANE Select | ENSP00000299727.3:p.Leu3Arg |
| NM_001480.3:c.8T>G | NP_001471.2:p.Leu3Arg |
| ENST00000299727.4:c.8T>G | ENSP00000299727.3:p.Leu3Arg |
| XM_017025691.1:c.8T>G | XP_016881180.1:p.Leu3Arg |