Linked Data
ClinVar Variation Id:
542419
dbSNP Id:
rs151132164
ExAC:
16:67693292 G / A
gnomAD v2:
16-67693292-G-A
gnomAD v3:
16-67659389-G-A
gnomAD v4:
16-67659389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67659389G>A , CM000678.2:g.67659389G>A | GRCh38 |
| NC_000016.9:g.67693292G>A , CM000678.1:g.67693292G>A | GRCh37 |
| NC_000016.8:g.66250793G>A | NCBI36 |
| NG_042874.1:g.6427C>T | |
| NG_054728.1:g.19471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602382.6:c.444C>T | ENSP00000473313.2:p.Leu148= | |
| ENST00000602519.2:n.674C>T | ||
| ENST00000602780.2:n.808C>T | ||
| ENST00000602850.6:c.*224C>T | ENSP00000473595.3:n.*224C>T | |
| ENST00000602860.6:n.1104C>T | ||
| ENST00000602945.6:n.586C>T | ||
| ENST00000695641.1:n.1101C>T | ||
| ENST00000695648.1:c.426C>T | ENSP00000512081.1:p.Leu142= | |
| ENST00000695649.1:n.1177C>T | ||
| ENST00000695650.1:c.*206C>T | ENSP00000512082.1:n.*206C>T | |
| ENST00000695656.1:n.631C>T | ||
| ENST00000695657.1:n.589C>T | ||
| ENST00000695658.1:c.444C>T | ENSP00000512088.1:p.Leu148= | |
| ENST00000695659.1:c.444C>T | ENSP00000512089.1:p.Leu148= | |
| ENST00000695660.1:n.697C>T | ||
| ENST00000695661.1:c.404+148C>T | ENSP00000512090.1:n.404+148C>T | |
| ENST00000695662.1:c.413+148C>T | ENSP00000512091.1:n.413+148C>T | |
| ENST00000695694.1:c.414-126C>T | ENSP00000512105.1:n.414-126C>T | |
| ENST00000695695.1:n.559+148C>T | ||
| ENST00000695696.1:n.565C>T | ||
| ENST00000695697.1:c.444C>T | ENSP00000512106.1:p.Leu148= | |
| ENST00000695698.1:n.583C>T | ||
| ENST00000695699.1:n.472C>T | ||
| ENST00000695700.1:n.549C>T | ||
| ENST00000695701.1:n.567C>T | ||
| ENST00000695702.1:n.299C>T | ||
| ENST00000695710.1:n.437C>T | ||
| ENST00000695711.1:c.444C>T | ENSP00000512109.1:p.Leu148= | |
| ENST00000695712.1:c.*194C>T | ENSP00000512110.1:n.*194C>T | |
| ENST00000695713.1:c.108C>T | ENSP00000512111.1:p.Leu36= | |
| ENST00000695732.1:c.444C>T | ENSP00000512125.1:p.Leu148= | |
| ENST00000695733.1:c.444C>T | ENSP00000512126.1:p.Leu148= | |
| ENST00000695734.1:c.444C>T | ENSP00000512127.1:p.Leu148= | |
| ENST00000695736.1:c.108C>T | ENSP00000512129.1:p.Leu36= | |
| ENST00000219251.13:c.435C>T | ENSP00000219251.8:p.Leu145= | |
| ENST00000620761.6:c.444C>T MANE Select | ENSP00000478084.1:p.Leu148= | |
| ENST00000219251.12:c.693C>T | ENSP00000219251.7:p.Leu231= | |
| ENST00000393919.8:c.702C>T | ENSP00000377496.4:p.Leu234= | |
| ENST00000602320.1:c.435C>T | ENSP00000473679.2:p.Leu145= | |
| ENST00000602519.1:n.661C>T | ||
| ENST00000602622.5:n.802C>T | ||
| ENST00000602850.5:c.275C>T | ENSP00000473595.2:n.275C>T | |
| ENST00000602860.5:n.622C>T | ||
| ENST00000602945.5:n.514C>T | ||
| ENST00000620338.4:c.702C>T | ENSP00000483117.1:p.Leu234= | |
| ENST00000620761.4:c.444C>T | ENSP00000478084.1:p.Leu148= | |
| NM_001082486.1:c.702C>T | NP_001075955.1:p.Leu234= | |
| NM_001082487.1:c.693C>T | NP_001075956.1:p.Leu231= | |
| NM_022914.2:c.693C>T | NP_075065.2:p.Leu231= | |
| XM_005256115.2:c.702C>T | XP_005256172.1:p.Leu234= | |
| XR_429727.2:n.1039C>T | ||
| XR_429728.2:n.1039C>T | ||
| NM_001082486.2:c.444C>T MANE Select | NP_001075955.2:p.Leu148= | |
| NM_022914.3:c.435C>T | NP_075065.3:p.Leu145= | |
| XM_005256115.4:c.702C>T | XP_005256172.1:p.Leu234= | |
| XR_429727.3:n.1052C>T | ||
| XR_429728.3:n.1056C>T |