Linked Data
ClinVar Variation Id:
179392
dbSNP Id:
rs569541375
ExAC:
22:36681954 G / A
gnomAD v2:
22-36681954-G-A
gnomAD v3:
22-36285908-G-A
gnomAD v4:
22-36285908-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36285908G>A , CM000684.2:g.36285908G>A | GRCh38 |
| NC_000022.10:g.36681954G>A , CM000684.1:g.36681954G>A | GRCh37 |
| NC_000022.9:g.35011900G>A | NCBI36 |
| NG_011884.2:g.107111C>T , LRG_567:g.107111C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685708.1:n.1540C>T | ||
| ENST00000685801.1:c.5170C>T | ENSP00000510688.1:p.Arg1724Trp | |
| ENST00000690244.1:n.443C>T | ||
| ENST00000691109.1:n.5402C>T | ||
| ENST00000216181.11:c.5107C>T MANE Select | ENSP00000216181.6:p.Arg1703Trp | |
| ENST00000216181.9:c.5107C>T | ENSP00000216181.5:p.Arg1703Trp | |
| ENST00000475726.5:n.137C>T | ||
| ENST00000486218.1:n.114C>T | ||
| NM_002473.5:c.5107C>T , LRG_567t1:c.5107C>T | NP_002464.1:p.Arg1703Trp | |
| XM_011530197.1:c.5107C>T | XP_011528499.1:p.Arg1703Trp | |
| XM_011530197.2:c.5107C>T | XP_011528499.1:p.Arg1703Trp | |
| XM_017028803.1:c.5107C>T | XP_016884292.1:p.Arg1703Trp | |
| XM_017028804.1:c.5107C>T | XP_016884293.1:p.Arg1703Trp | |
| XM_017028805.1:c.5107C>T | XP_016884294.1:p.Arg1703Trp | |
| XM_017028806.1:c.5107C>T | XP_016884295.1:p.Arg1703Trp | |
| NM_002473.6:c.5107C>T MANE Select | NP_002464.1:p.Arg1703Trp |