Linked Data
ClinVar Variation Id:
377031
dbSNP Id:
rs144653284
gnomAD v2:
11-78277185-A-T
gnomAD v4:
11-78566139-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78566139A>T , CM000673.2:g.78566139A>T | GRCh38 |
| NC_000011.9:g.78277185A>T , CM000673.1:g.78277185A>T | GRCh37 |
| NC_000011.8:g.77954833A>T | NCBI36 |
| NG_042046.1:g.13726T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525345.6:n.129T>A | ||
| ENST00000529771.2:c.-176T>A | ENSP00000435298.2:n.-176T>A | |
| ENST00000695114.1:n.3167T>A | ||
| ENST00000695115.1:c.-268T>A | ENSP00000511705.1:n.-268T>A | |
| ENST00000695116.1:c.-176T>A | ENSP00000511706.1:n.-176T>A | |
| ENST00000695117.1:n.401T>A | ||
| ENST00000695341.1:c.*309T>A | ENSP00000511816.1:n.*309T>A | |
| ENST00000695342.1:c.-176T>A | ENSP00000511817.1:n.-176T>A | |
| ENST00000695343.1:c.-176T>A | ENSP00000511818.1:n.-176T>A | |
| ENST00000695344.1:c.506T>A | ENSP00000511819.1:p.Phe169Tyr | |
| ENST00000695345.1:c.-176T>A | ENSP00000511820.1:n.-176T>A | |
| ENST00000695346.1:c.506T>A | ENSP00000511821.1:p.Phe169Tyr | |
| ENST00000695347.1:c.506T>A | ENSP00000511822.1:p.Phe169Tyr | |
| ENST00000695348.1:c.-95T>A | ENSP00000511823.1:n.-95T>A | |
| ENST00000695349.1:c.506T>A | ENSP00000511824.1:p.Phe169Tyr | |
| ENST00000695350.1:c.506T>A | ENSP00000511825.1:p.Phe169Tyr | |
| ENST00000695351.1:c.506T>A | ENSP00000511826.1:p.Phe169Tyr | |
| ENST00000695352.1:c.-214T>A | ENSP00000511827.1:n.-214T>A | |
| ENST00000695353.1:c.-289T>A | ENSP00000511828.1:n.-289T>A | |
| ENST00000695354.1:c.506T>A | ENSP00000511829.1:p.Phe169Tyr | |
| ENST00000695355.1:c.506T>A | ENSP00000511830.1:p.Phe169Tyr | |
| ENST00000695356.1:c.*487T>A | ENSP00000511831.1:n.*487T>A | |
| ENST00000695357.1:c.506T>A | ENSP00000511832.1:p.Phe169Tyr | |
| ENST00000695358.1:c.506T>A | ENSP00000511833.1:p.Phe169Tyr | |
| ENST00000695359.1:c.506T>A | ENSP00000511834.1:p.Phe169Tyr | |
| ENST00000695360.1:c.506T>A | ENSP00000511835.1:p.Phe169Tyr | |
| ENST00000695361.1:c.506T>A | ENSP00000511836.1:p.Phe169Tyr | |
| ENST00000695362.1:c.506T>A | ENSP00000511837.1:p.Phe169Tyr | |
| ENST00000695364.1:n.844T>A | ||
| ENST00000695365.1:n.796T>A | ||
| ENST00000695366.1:c.506T>A | ENSP00000511838.1:p.Phe169Tyr | |
| ENST00000281038.10:c.506T>A MANE Select | ENSP00000281038.5:p.Phe169Tyr | |
| ENST00000281038.9:c.506T>A | ENSP00000281038.5:p.Phe169Tyr | |
| ENST00000525345.5:c.129T>A | ||
| ENST00000528850.5:c.-176T>A | ENSP00000432635.1:n.-176T>A | |
| ENST00000529571.1:c.-176T>A | ENSP00000433478.1:n.-176T>A | |
| ENST00000529880.1:c.506T>A | ENSP00000432240.1:p.Phe169Tyr | |
| NM_001243251.1:c.-176T>A | NP_001230180.1:n.-176T>A | |
| NM_024678.5:c.506T>A | NP_078954.4:p.Phe169Tyr | |
| XM_011545253.1:c.506T>A | XP_011543555.1:p.Phe169Tyr | |
| XR_950050.1:n.875T>A | ||
| XR_950051.1:n.875T>A | ||
| XM_011545253.2:c.506T>A | XP_011543555.1:p.Phe169Tyr | |
| XM_017018302.2:c.506T>A | XP_016873791.1:p.Phe169Tyr | |
| XM_017018303.1:c.-248T>A | XP_016873792.1:n.-248T>A | |
| XM_017018304.2:c.-176T>A | XP_016873793.1:n.-176T>A | |
| XR_001747963.2:n.860T>A | ||
| XR_001747964.2:n.860T>A | ||
| XR_001747965.2:n.860T>A | ||
| XR_001747966.2:n.860T>A | ||
| NM_024678.6:c.506T>A MANE Select | NP_078954.4:p.Phe169Tyr | |
| NM_001243251.2:c.-176T>A | NP_001230180.1:n.-176T>A |