Linked Data
ClinVar Variation Id:
264288
dbSNP Id:
rs139537086
ExAC:
20:32005607 G / A
gnomAD v2:
20-32005607-G-A
gnomAD v3:
20-33417801-G-A
gnomAD v4:
20-33417801-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33417801G>A , CM000682.2:g.33417801G>A | GRCh38 |
| NC_000020.10:g.32005607G>A , CM000682.1:g.32005607G>A | GRCh37 |
| NC_000020.9:g.31469268G>A | NCBI36 |
| NG_011622.1:g.31092C>T , LRG_332:g.31092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.619C>T MANE Select | ENSP00000217381.2:p.Arg207Trp | |
| ENST00000217381.2:c.619C>T | ENSP00000217381.2:p.Arg207Trp | |
| NM_003098.2:c.619C>T , LRG_332t1:c.619C>T | NP_003089.1:p.Arg207Trp | |
| XM_005260517.1:c.619C>T | XP_005260574.1:p.Arg207Trp | |
| XM_011529007.1:c.619C>T | XP_011527309.1:p.Arg207Trp | |
| XM_011529008.1:c.619C>T | XP_011527310.1:p.Arg207Trp | |
| XR_936612.1:n.852C>T | ||
| XM_024451971.1:c.292C>T | XP_024307739.1:p.Arg98Trp | |
| NM_003098.3:c.619C>T MANE Select | NP_003089.1:p.Arg207Trp |