Linked Data
ClinVar Variation Id:
3761
ClinVar RCV Id:
RCV000003959
dbSNP Id:
rs121908017
gnomAD v2:
10-127483547-C-A
PubMed:
PMID:12060141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125794978C>A , CM000672.2:g.125794978C>A | GRCh38 |
| NC_000010.10:g.127483547C>A , CM000672.1:g.127483547C>A | GRCh37 |
| NC_000010.9:g.127473537C>A | NCBI36 |
| NG_011557.1:g.33291G>T | |
| NG_011557.2:g.33291G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.562G>T | ENSP00000518871.1:p.Gly188Trp | |
| ENST00000368797.10:c.562G>T MANE Select | ENSP00000357787.4:p.Gly188Trp | |
| ENST00000465577.6:c.336G>T | ||
| ENST00000648119.1:c.*151G>T | ENSP00000497494.1:n.*151G>T | |
| ENST00000648427.1:c.*314G>T | ENSP00000497909.1:n.*314G>T | |
| ENST00000649275.1:c.577G>T | ||
| ENST00000649536.1:c.481G>T | ENSP00000497817.1:p.Gly161Trp | |
| ENST00000650185.1:c.345G>T | ||
| ENST00000650472.1:n.2948G>T | ||
| ENST00000650524.1:c.475G>T | ENSP00000498108.1:n.475G>T | |
| ENST00000650587.1:c.562G>T | ENSP00000497366.1:p.Gly188Trp | |
| ENST00000368786.5:c.562G>T | ENSP00000357775.1:p.Gly188Trp | |
| ENST00000368797.8:c.562G>T | ENSP00000357787.4:p.Gly188Trp | |
| ENST00000420761.5:c.478G>T | ENSP00000414833.1:p.Gly160Trp | |
| ENST00000462490.5:c.221G>T | ||
| ENST00000464267.1:n.126G>T | ||
| ENST00000465577.5:n.123G>T | ||
| ENST00000470483.1:n.250G>T | ||
| ENST00000484541.5:n.89G>T | ||
| ENST00000616800.4:c.62G>T | ||
| ENST00000622016.4:c.142G>T | ENSP00000483041.1:p.Gly48Trp | |
| NM_000375.2:c.562G>T | NP_000366.1:p.Gly188Trp | |
| XM_005270137.2:c.562G>T | XP_005270194.1:p.Gly188Trp | |
| XM_005270138.2:c.481G>T | XP_005270195.1:p.Gly161Trp | |
| XM_005270139.2:c.562G>T | XP_005270196.1:p.Gly188Trp | |
| XM_005270140.3:c.562G>T | XP_005270197.1:p.Gly188Trp | |
| XM_006717960.2:c.562G>T | XP_006718023.1:p.Gly188Trp | |
| XM_011540126.1:c.562G>T | XP_011538428.1:p.Gly188Trp | |
| XM_011540127.1:c.562G>T | XP_011538429.1:p.Gly188Trp | |
| XR_246103.2:n.742G>T | ||
| XR_945809.1:n.670G>T | ||
| XR_945810.1:n.972G>T | ||
| NM_000375.3:c.562G>T MANE Select | NP_000366.1:p.Gly188Trp | |
| NM_001324036.1:c.562G>T | NP_001310965.1:p.Gly188Trp | |
| NM_001324037.1:c.481G>T | NP_001310966.1:p.Gly161Trp | |
| NM_001324038.1:c.481G>T | NP_001310967.1:p.Gly161Trp | |
| NR_136675.1:n.647G>T | ||
| NR_136676.1:n.828G>T | ||
| NR_136677.1:n.828G>T | ||
| NR_136678.1:n.558G>T | ||
| XM_005270140.5:c.562G>T | XP_005270197.1:p.Gly188Trp | |
| XM_011540127.2:c.562G>T | XP_011538429.1:p.Gly188Trp | |
| XM_017016611.2:c.562G>T | XP_016872100.2:p.Gly188Trp | |
| XM_017016612.2:c.562G>T | XP_016872101.1:p.Gly188Trp | |
| XM_024448154.1:c.562G>T | XP_024303922.1:p.Gly188Trp | |
| XM_024448155.1:c.481G>T | XP_024303923.1:p.Gly161Trp | |
| XR_001747196.2:n.685G>T | ||
| XR_001747197.2:n.757G>T | ||
| XR_002957009.1:n.685G>T | ||
| XR_002957010.1:n.1901G>T | ||
| XR_246103.3:n.757G>T | ||
| XR_945810.2:n.987G>T | ||
| NM_001324036.2:c.562G>T | NP_001310965.1:p.Gly188Trp | |
| NM_001324037.2:c.481G>T | NP_001310966.1:p.Gly161Trp | |
| NM_001324038.2:c.481G>T | NP_001310967.1:p.Gly161Trp | |
| NR_136675.2:n.637G>T | ||
| NR_136676.2:n.818G>T | ||
| NR_136678.2:n.548G>T | ||
| NR_136677.2:n.818G>T |