Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169552604C>A , CM000663.2:g.169552604C>A | GRCh38 |
| NC_000001.10:g.169521842C>A , CM000663.1:g.169521842C>A | GRCh37 |
| NC_000001.9:g.167788466C>A | NCBI36 |
| NG_011806.1:g.38928G>T , LRG_553:g.38928G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.1249G>T MANE Select | ENSP00000356771.3:p.Gly417Trp | |
| ENST00000367796.3:c.1249G>T | ENSP00000356770.3:p.Gly417Trp | |
| ENST00000367797.7:c.1249G>T | ENSP00000356771.3:p.Gly417Trp | |
| NM_000130.4:c.1249G>T , LRG_553t1:c.1249G>T | NP_000121.2:p.Gly417Trp | |
| XM_017000660.2:c.838G>T | XP_016856149.1:p.Gly280Trp | |
| NM_000130.5:c.1249G>T MANE Select | NP_000121.2:p.Gly417Trp |