Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98186918G>A , CM000669.2:g.98186918G>A | GRCh38 |
| NC_000007.13:g.97816230G>A , CM000669.1:g.97816230G>A | GRCh37 |
| NC_000007.12:g.97654166G>A | NCBI36 |
| NG_013375.1:g.85034G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297293.6:c.918G>A MANE Select | ENSP00000297293.5:p.Leu306= | |
| ENST00000297293.5:c.918G>A | ENSP00000297293.5:p.Leu306= | |
| NM_014916.3:c.918G>A | NP_055731.2:p.Leu306= | |
| XM_011515981.1:c.912G>A | XP_011514283.1:p.Leu304= | |
| XM_011515981.3:c.912G>A | XP_011514283.1:p.Leu304= | |
| NM_014916.4:c.918G>A MANE Select | NP_055731.2:p.Leu306= |