Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98186937T= , CM000669.2:g.98186937T= | GRCh38 |
| NC_000007.13:g.97816249T= , CM000669.1:g.97816249T= | GRCh37 |
| NC_000007.12:g.97654185T= | NCBI36 |
| NG_013375.1:g.85053T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.937T= MANE Select | ENSP00000297293.5:p.Leu313= | |
| ENST00000297293.5:c.937T= | ENSP00000297293.5:p.Leu313= | |
| NM_014916.3:c.937T= | NP_055731.2:p.Leu313= | |
| XM_011515981.1:c.931T= | XP_011514283.1:p.Leu311= | |
| XM_011515981.3:c.931T= | XP_011514283.1:p.Leu311= | |
| NM_014916.4:c.937T= MANE Select | NP_055731.2:p.Leu313= |