Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665994G>T , CM000679.2:g.39665994G>T | GRCh38 |
| NC_000017.10:g.37822247G>T , CM000679.1:g.37822247G>T | GRCh37 |
| NC_000017.9:g.35075773G>T | NCBI36 |
| NG_008892.1:g.5649G>T , LRG_210:g.5649G>T | |
| NG_042278.1:g.3014G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.389G>T MANE Select | ENSP00000312624.2:p.Arg130Leu | |
| ENST00000309889.2:c.389G>T | ENSP00000312624.2:p.Arg130Leu | |
| ENST00000578283.1:c.317G>T | ENSP00000462787.1:p.Arg106Leu | |
| NM_003673.3:c.389G>T , LRG_210t1:c.389G>T | NP_003664.1:p.Arg130Leu | |
| NM_003673.4:c.389G>T MANE Select | NP_003664.1:p.Arg130Leu |