Linked Data
ClinVar Variation Id:
658319
dbSNP Id:
rs372939905
ExAC:
14:77745129 G / A
gnomAD v2:
14-77745129-G-A
gnomAD v3:
14-77278786-G-A
gnomAD v4:
14-77278786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278786G>A , CM000676.2:g.77278786G>A | GRCh38 |
| NC_000014.8:g.77745129G>A , CM000676.1:g.77745129G>A | GRCh37 |
| NC_000014.7:g.76814882G>A | NCBI36 |
| NG_008897.1:g.47097C>T , LRG_844:g.47097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.900C>T | ||
| ENST00000556394.2:c.1516C>T | ENSP00000451967.2:p.Arg506Trp | |
| ENST00000682128.1:c.276C>T | ENSP00000506976.1:n.276C>T | |
| ENST00000682247.1:c.1964C>T | ENSP00000507213.1:p.Pro655Leu | |
| ENST00000682395.1:n.2439C>T | ||
| ENST00000682459.1:n.1678C>T | ||
| ENST00000682467.1:c.1892-278C>T | ENSP00000508062.1:n.1892-278C>T | |
| ENST00000682615.1:n.329C>T | ||
| ENST00000682795.1:c.2122C>T | ENSP00000507574.1:p.Arg708Trp | |
| ENST00000682895.1:n.1691C>T | ||
| ENST00000682955.1:n.1549C>T | ||
| ENST00000683095.1:c.381C>T | ENSP00000508040.1:n.381C>T | |
| ENST00000683188.1:c.2236C>T | ||
| ENST00000683380.1:n.1639C>T | ||
| ENST00000683828.1:c.1684C>T | ||
| ENST00000683907.1:c.240C>T | ENSP00000507754.1:n.240C>T | |
| ENST00000684172.1:c.351C>T | ENSP00000508391.1:n.351C>T | |
| ENST00000684259.1:n.3742C>T | ||
| ENST00000684538.1:n.1354C>T | ||
| ENST00000684549.1:n.1526C>T | ||
| ENST00000261534.9:c.1975C>T MANE Select | ENSP00000261534.4:p.Arg659Trp | |
| ENST00000261534.8:c.1975C>T | ENSP00000261534.4:p.Arg659Trp | |
| ENST00000452340.7:n.2951C>T | ||
| ENST00000554767.5:n.2761C>T | ||
| ENST00000555710.1:c.336C>T | ENSP00000451730.1:n.336C>T | |
| ENST00000556171.1:c.567C>T | ||
| ENST00000556394.1:c.88-278C>T | ||
| ENST00000556446.1:n.276C>T | ||
| ENST00000602717.5:c.190C>T | ENSP00000487704.1:p.Arg64Trp | |
| NM_013382.5:c.1975C>T , LRG_844t1:c.1975C>T | NP_037514.2:p.Arg659Trp | |
| XM_011536675.1:c.2164C>T | XP_011534977.1:p.Arg722Trp | |
| XM_011536676.1:c.1831C>T | XP_011534978.1:p.Arg611Trp | |
| XM_011536677.1:c.1705C>T | XP_011534979.1:p.Arg569Trp | |
| XM_011536679.1:c.1258C>T | XP_011534981.1:p.Arg420Trp | |
| XR_943416.1:n.2228C>T | ||
| XM_011536675.2:c.2164C>T | XP_011534977.1:p.Arg722Trp | |
| XM_011536676.2:c.1831C>T | XP_011534978.1:p.Arg611Trp | |
| XM_011536677.3:c.1705C>T | XP_011534979.1:p.Arg569Trp | |
| XR_001750279.1:n.2261C>T | ||
| XR_001750282.1:n.2914C>T | ||
| XR_943416.3:n.2226C>T | ||
| NM_013382.6:c.1975C>T | NP_037514.2:p.Arg659Trp | |
| NM_013382.7:c.1975C>T MANE Select | NP_037514.2:p.Arg659Trp |