Linked Data
gnomAD v4:
21-44292309-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292309T>A , CM000683.2:g.44292309T>A | GRCh38 |
| NC_000021.8:g.45712192T>A , CM000683.1:g.45712192T>A | GRCh37 |
| NC_000021.7:g.44536620T>A | NCBI36 |
| NG_009556.1:g.11430T>A , LRG_18:g.11430T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1003T>A MANE Select | ENSP00000291582.5:p.Trp335Arg | |
| ENST00000291582.5:c.1003T>A | ENSP00000291582.5:p.Trp335Arg | |
| ENST00000337909.5:n.464T>A | ||
| ENST00000397994.8:n.464T>A | ||
| ENST00000527919.5:n.1733T>A | ||
| ENST00000530812.5:n.2750T>A | ||
| NM_000383.3:c.1003T>A | NP_000374.1:p.Trp335Arg | |
| XM_011529551.1:c.1000T>A | XP_011527853.1:p.Trp334Arg | |
| NM_000383.4:c.1003T>A MANE Select | NP_000374.1:p.Trp335Arg |