Linked Data
ClinVar Variation Id:
372656
dbSNP Id:
rs137852814
gnomAD v3:
2-39022774-T-A
gnomAD v4:
2-39022774-T-A
ERepo:
CA16042455/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022774T>A , CM000664.2:g.39022774T>A | GRCh38 |
| NC_000002.11:g.39249915T>A , CM000664.1:g.39249915T>A | GRCh37 |
| NC_000002.10:g.39103419T>A | NCBI36 |
| NG_007530.1:g.102690A>T , LRG_754:g.102690A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1534A>T | ||
| ENST00000685279.1:c.421A>T | ENSP00000509424.1:p.Arg141Trp | |
| ENST00000688043.1:n.1875A>T | ||
| ENST00000689668.1:n.1661A>T | ||
| ENST00000690876.1:c.1543A>T | ENSP00000508955.1:p.Arg515Trp | |
| ENST00000691229.1:c.1543A>T | ENSP00000510437.1:p.Arg515Trp | |
| ENST00000692089.1:c.1543A>T | ENSP00000508626.1:p.Arg515Trp | |
| ENST00000692620.1:c.421A>T | ENSP00000509311.1:p.Arg141Trp | |
| ENST00000402219.8:c.1654A>T MANE Select | ENSP00000384675.2:p.Arg552Trp | |
| ENST00000395038.6:c.1654A>T | ENSP00000378479.2:p.Arg552Trp | |
| ENST00000402219.6:c.1654A>T | ENSP00000384675.2:p.Arg552Trp | |
| ENST00000426016.5:c.1654A>T | ENSP00000387784.1:p.Arg552Trp | |
| NM_005633.3:c.1654A>T , LRG_754t1:c.1654A>T | NP_005624.2:p.Arg552Trp | |
| XM_005264515.3:c.1654A>T | XP_005264572.1:p.Arg552Trp | |
| XM_011533060.1:c.1747A>T | XP_011531362.1:p.Arg583Trp | |
| XM_011533061.1:c.1747A>T | XP_011531363.1:p.Arg583Trp | |
| XM_011533062.1:c.1633A>T | XP_011531364.1:p.Arg545Trp | |
| XM_011533063.1:c.1630A>T | XP_011531365.1:p.Arg544Trp | |
| XM_011533064.1:c.1483A>T | XP_011531366.1:p.Arg495Trp | |
| XM_011533065.1:c.1747A>T | XP_011531367.1:p.Arg583Trp | |
| XM_011533066.1:c.589A>T | XP_011531368.1:p.Arg197Trp | |
| XM_005264515.4:c.1654A>T | XP_005264572.1:p.Arg552Trp | |
| XM_011533062.2:c.1633A>T | XP_011531364.1:p.Arg545Trp | |
| XM_011533064.2:c.1483A>T | XP_011531366.1:p.Arg495Trp | |
| NM_001382394.1:c.1633A>T | NP_001369323.1:p.Arg545Trp | |
| NM_001382395.1:c.1654A>T | NP_001369324.1:p.Arg552Trp | |
| NM_005633.4:c.1654A>T MANE Select | NP_005624.2:p.Arg552Trp |