Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50108094T>G , CM000674.2:g.50108094T>G | GRCh38 |
| NC_000012.11:g.50501877T>G , CM000674.1:g.50501877T>G | GRCh37 |
| NC_000012.10:g.48788144T>G | NCBI36 |
| NG_032155.1:g.1114T>G | |
| NG_032168.1:g.9276T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301149.8:c.917T>G MANE Select | ENSP00000301149.3:p.Leu306Arg | |
| ENST00000301149.7:c.917T>G | ENSP00000301149.3:p.Leu306Arg | |
| ENST00000547190.5:n.726T>G | ||
| ENST00000548814.1:c.848T>G | ENSP00000446768.1:p.Leu283Arg | |
| NM_001257199.1:c.848T>G | NP_001244128.1:p.Leu283Arg | |
| NM_005276.3:c.917T>G | NP_005267.2:p.Leu306Arg | |
| NM_005276.4:c.917T>G MANE Select | NP_005267.2:p.Leu306Arg | |
| NM_001257199.2:c.848T>G | NP_001244128.1:p.Leu283Arg |