Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98186920G>T , CM000669.2:g.98186920G>T | GRCh38 |
| NC_000007.13:g.97816232G>T , CM000669.1:g.97816232G>T | GRCh37 |
| NC_000007.12:g.97654168G>T | NCBI36 |
| NG_013375.1:g.85036G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.920G>T MANE Select | ENSP00000297293.5:p.Arg307Leu | |
| ENST00000297293.5:c.920G>T | ENSP00000297293.5:p.Arg307Leu | |
| NM_014916.3:c.920G>T | NP_055731.2:p.Arg307Leu | |
| XM_011515981.1:c.914G>T | XP_011514283.1:p.Arg305Leu | |
| XM_011515981.3:c.914G>T | XP_011514283.1:p.Arg305Leu | |
| NM_014916.4:c.920G>T MANE Select | NP_055731.2:p.Arg307Leu |