Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286702T>G , CM000683.2:g.44286702T>G | GRCh38 |
| NC_000021.8:g.45706585T>G , CM000683.1:g.45706585T>G | GRCh37 |
| NC_000021.7:g.44531013T>G | NCBI36 |
| NG_009556.1:g.5823T>G , LRG_18:g.5823T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.278T>G MANE Select | NP_000374.1:p.Leu93Arg |
| ENST00000291582.6:c.278T>G MANE Select | ENSP00000291582.5:p.Leu93Arg |
| NM_000383.3:c.278T>G | NP_000374.1:p.Leu93Arg |
| ENST00000291582.5:c.278T>G | ENSP00000291582.5:p.Leu93Arg |
| ENST00000527919.5:n.439T>G | |
| ENST00000530812.5:n.447T>G | |
| XM_011529551.1:c.278T>G | XP_011527853.1:p.Leu93Arg |