Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40209701T>G , CM000677.2:g.40209701T>G | GRCh38 |
| NC_000015.9:g.40501902T>G , CM000677.1:g.40501902T>G | GRCh37 |
| NC_000015.8:g.38289194T>G | NCBI36 |
| NG_016338.1:g.53693T>G , LRG_489:g.53693T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.2210T>G MANE Select | NP_001202.5:p.Leu737Ter |
| ENST00000287598.11:c.2210T>G MANE Select | ENSP00000287598.7:p.Leu737Ter |
| NM_001211.5:c.2210T>G , LRG_489t1:c.2210T>G | NP_001202.4:p.Leu737Ter |
| ENST00000287598.10:c.2210T>G | ENSP00000287598.6:p.Leu737Ter |
| ENST00000412359.7:c.2252T>G | ENSP00000398470.3:p.Leu751Ter |
| XR_001751506.1:n.218-29500A>C |