Linked Data
ClinVar Variation Id:
2151804
ClinVar RCV Id:
RCV003061501
dbSNP Id:
rs374376964
ExAC:
11:17522619 G / A
gnomAD v2:
11-17522619-G-A
gnomAD v3:
11-17501072-G-A
gnomAD v4:
11-17501072-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17501072G>A , CM000673.2:g.17501072G>A | GRCh38 |
| NC_000011.9:g.17522619G>A , CM000673.1:g.17522619G>A | GRCh37 |
| NC_000011.8:g.17479195G>A | NCBI36 |
| NG_011883.1:g.48345C>T | |
| NG_011883.2:g.48345C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2359C>T MANE Select | ENSP00000005226.7:p.Arg787Trp | |
| ENST00000318024.9:c.1459C>T MANE Plus Clinical | ENSP00000317018.4:p.Arg487Trp | |
| ENST00000005226.11:c.2359C>T | ENSP00000005226.7:p.Arg787Trp | |
| ENST00000318024.8:c.1459C>T | ENSP00000317018.4:p.Arg487Trp | |
| ENST00000526313.5:c.*173C>T | ENSP00000432236.1:n.*173C>T | |
| ENST00000527020.5:c.1402C>T | ENSP00000436934.1:p.Arg468Trp | |
| ENST00000527720.5:c.1366C>T | ENSP00000432944.1:p.Arg456Trp | |
| ENST00000529563.5:n.343C>T | ||
| ENST00000534556.1:n.244C>T | ||
| NM_001297764.1:c.1402C>T | NP_001284693.1:p.Arg468Trp | |
| NM_005709.3:c.1459C>T | NP_005700.2:p.Arg487Trp | |
| NM_153676.3:c.2359C>T | NP_710142.1:p.Arg787Trp | |
| NR_123738.1:n.1494C>T | ||
| XM_011519831.1:c.2383C>T | XP_011518133.1:p.Arg795Trp | |
| XM_011519832.1:c.1612C>T | XP_011518134.1:p.Arg538Trp | |
| XM_011519833.1:c.*66C>T | XP_011518135.1:n.*66C>T | |
| XR_930841.1:n.1830C>T | ||
| XR_930842.1:n.1771C>T | ||
| XM_011519832.3:c.1612C>T | XP_011518134.1:p.Arg538Trp | |
| XM_017017075.1:c.2359C>T | XP_016872564.1:p.Arg787Trp | |
| XR_001747717.2:n.1618C>T | ||
| NM_153676.4:c.2359C>T MANE Select | NP_710142.1:p.Arg787Trp | |
| NM_001297764.2:c.1402C>T | NP_001284693.1:p.Arg468Trp | |
| NM_005709.4:c.1459C>T MANE Plus Clinical | NP_005700.2:p.Arg487Trp | |
| NR_123738.2:n.1494C>T |