Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292390G= , CM000683.2:g.44292390G= | GRCh38 |
| NC_000021.8:g.45712273G= , CM000683.1:g.45712273G= | GRCh37 |
| NC_000021.7:g.44536701G= | NCBI36 |
| NG_009556.1:g.11511G= , LRG_18:g.11511G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1084G= MANE Select | NP_000374.1:p.Val362= |
| ENST00000291582.6:c.1084G= MANE Select | ENSP00000291582.5:p.Val362= |
| NM_000383.3:c.1084G= | NP_000374.1:p.Val362= |
| ENST00000291582.5:c.1084G= | ENSP00000291582.5:p.Val362= |
| ENST00000337909.5:n.545G= | |
| ENST00000397994.8:n.545G= | |
| ENST00000527919.5:n.1814G= | |
| ENST00000530812.5:n.2831G= | |
| XM_011529551.1:c.1081G= | XP_011527853.1:p.Val361= |