Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44291138T>G , CM000683.2:g.44291138T>G | GRCh38 |
| NC_000021.8:g.45711021T>G , CM000683.1:g.45711021T>G | GRCh37 |
| NC_000021.7:g.44535449T>G | NCBI36 |
| NG_009556.1:g.10259T>G , LRG_18:g.10259T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.923T>G MANE Select | ENSP00000291582.5:p.Leu308Arg | |
| ENST00000291582.5:c.923T>G | ENSP00000291582.5:p.Leu308Arg | |
| ENST00000337909.5:n.384T>G | ||
| ENST00000397994.8:n.384T>G | ||
| ENST00000527919.5:n.1653T>G | ||
| ENST00000530812.5:n.2670T>G | ||
| NM_000383.3:c.923T>G | NP_000374.1:p.Leu308Arg | |
| XM_011529551.1:c.920T>G | XP_011527853.1:p.Leu307Arg | |
| NM_000383.4:c.923T>G MANE Select | NP_000374.1:p.Leu308Arg |