Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39666063G>T , CM000679.2:g.39666063G>T | GRCh38 |
| NC_000017.10:g.37822316G>T , CM000679.1:g.37822316G>T | GRCh37 |
| NC_000017.9:g.35075842G>T | NCBI36 |
| NG_008892.1:g.5718G>T , LRG_210:g.5718G>T | |
| NG_042278.1:g.3083G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003673.4:c.458G>T MANE Select | NP_003664.1:p.Arg153Leu |
| ENST00000309889.3:c.458G>T MANE Select | ENSP00000312624.2:p.Arg153Leu |
| NM_003673.3:c.458G>T , LRG_210t1:c.458G>T | NP_003664.1:p.Arg153Leu |
| ENST00000309889.2:c.458G>T | ENSP00000312624.2:p.Arg153Leu |
| ENST00000578283.1:c.386G>T | ENSP00000462787.1:p.Arg129Leu |