Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665973T>G , CM000679.2:g.39665973T>G | GRCh38 |
| NC_000017.10:g.37822226T>G , CM000679.1:g.37822226T>G | GRCh37 |
| NC_000017.9:g.35075752T>G | NCBI36 |
| NG_008892.1:g.5628T>G , LRG_210:g.5628T>G | |
| NG_042278.1:g.2993T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.368T>G MANE Select | ENSP00000312624.2:p.Leu123Arg | |
| ENST00000309889.2:c.368T>G | ENSP00000312624.2:p.Leu123Arg | |
| ENST00000578283.1:c.296T>G | ENSP00000462787.1:p.Leu99Arg | |
| NM_003673.3:c.368T>G , LRG_210t1:c.368T>G | NP_003664.1:p.Leu123Arg | |
| NM_003673.4:c.368T>G MANE Select | NP_003664.1:p.Leu123Arg |