Linked Data
ClinVar Variation Id:
417739
dbSNP Id:
rs189694750
ExAC:
X:50378637 G / A
gnomAD v2:
X-50378637-G-A
gnomAD v3:
X-50635637-G-A
gnomAD v4:
X-50635637-G-A
PubMed:
PMID:26740508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50635637G>A , CM000685.2:g.50635637G>A | GRCh38 |
| NC_000023.10:g.50378637G>A , CM000685.1:g.50378637G>A | GRCh37 |
| NC_000023.9:g.50395377G>A | NCBI36 |
| NG_011882.1:g.183408C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376020.9:c.436C>T MANE Select | ENSP00000365188.2:p.Arg146Trp | |
| ENST00000376020.8:c.436C>T | ENSP00000365188.2:p.Arg146Trp | |
| ENST00000289292.11:c.436C>T | ENSP00000289292.7:p.Arg146Trp | |
| ENST00000376020.6:c.436C>T | ENSP00000365188.2:p.Arg146Trp | |
| ENST00000460112.3:c.88C>T | ENSP00000421450.1:p.Arg30Trp | |
| NM_020717.3:c.436C>T | NP_065768.2:p.Arg146Trp | |
| NR_027121.1:n.462C>T | ||
| XM_006724590.2:c.88C>T | XP_006724653.1:p.Arg30Trp | |
| XM_006724591.2:c.-39C>T | XP_006724654.1:n.-39C>T | |
| XM_011530800.1:c.301C>T | XP_011529102.1:p.Arg101Trp | |
| XM_011530801.1:c.436C>T | XP_011529103.1:p.Arg146Trp | |
| XR_938367.1:n.554C>T | ||
| XR_938368.1:n.554C>T | ||
| XM_017029682.2:c.436C>T | XP_016885171.1:p.Arg146Trp | |
| XM_017029683.1:c.301C>T | XP_016885172.1:p.Arg101Trp | |
| XM_017029684.1:c.88C>T | XP_016885173.1:p.Arg30Trp | |
| XM_017029685.2:c.436C>T | XP_016885174.1:p.Arg146Trp | |
| XM_017029686.1:c.-39C>T | XP_016885175.1:n.-39C>T | |
| XM_017029687.2:c.436C>T | XP_016885176.1:p.Arg146Trp | |
| XR_001755716.2:n.567C>T | ||
| XR_001755717.2:n.567C>T | ||
| XR_001755718.2:n.567C>T | ||
| NM_020717.5:c.436C>T MANE Select | NP_065768.2:p.Arg146Trp | |
| NR_027121.3:n.612C>T | ||
| NR_172068.1:n.477C>T | ||
| NR_172069.1:n.532C>T | ||
| NR_172070.1:n.397C>T |