Linked Data
ClinVar Variation Id:
582117
dbSNP Id:
rs768256055
ExAC:
14:77753119 G / A
gnomAD v2:
14-77753119-G-A
gnomAD v3:
14-77286776-G-A
gnomAD v4:
14-77286776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286776G>A , CM000676.2:g.77286776G>A | GRCh38 |
| NC_000014.8:g.77753119G>A , CM000676.1:g.77753119G>A | GRCh37 |
| NC_000014.7:g.76822872G>A | NCBI36 |
| NG_008897.1:g.39107C>T , LRG_844:g.39107C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.841C>T | ENSP00000451967.2:p.Arg281Trp | |
| ENST00000682247.1:c.1300C>T | ENSP00000507213.1:p.Arg434Trp | |
| ENST00000682382.1:c.872C>T | ||
| ENST00000682395.1:n.1478C>T | ||
| ENST00000682459.1:n.1003C>T | ||
| ENST00000682467.1:c.1300C>T | ENSP00000508062.1:p.Arg434Trp | |
| ENST00000682706.1:n.77C>T | ||
| ENST00000682795.1:c.1300C>T | ENSP00000507574.1:p.Arg434Trp | |
| ENST00000682895.1:n.1016C>T | ||
| ENST00000682955.1:n.588C>T | ||
| ENST00000683188.1:c.1275C>T | ||
| ENST00000683328.1:c.293C>T | ENSP00000508096.1:n.293C>T | |
| ENST00000683380.1:n.964C>T | ||
| ENST00000683828.1:c.1009C>T | ||
| ENST00000684259.1:n.1151C>T | ||
| ENST00000684444.1:c.47C>T | ||
| ENST00000684549.1:n.851C>T | ||
| ENST00000261534.9:c.1300C>T MANE Select | ENSP00000261534.4:p.Arg434Trp | |
| ENST00000261534.8:c.1300C>T | ENSP00000261534.4:p.Arg434Trp | |
| ENST00000452340.7:n.1323C>T | ||
| ENST00000553880.5:n.171C>T | ||
| ENST00000554767.5:n.2086C>T | ||
| ENST00000554884.5:n.292C>T | ||
| ENST00000556404.1:n.434C>T | ||
| ENST00000556851.1:n.336C>T | ||
| ENST00000557675.5:n.390C>T | ||
| NM_013382.5:c.1300C>T , LRG_844t1:c.1300C>T | NP_037514.2:p.Arg434Trp | |
| XM_011536675.1:c.1300C>T | XP_011534977.1:p.Arg434Trp | |
| XM_011536676.1:c.967C>T | XP_011534978.1:p.Arg323Trp | |
| XM_011536677.1:c.841C>T | XP_011534979.1:p.Arg281Trp | |
| XM_011536678.1:c.1300C>T | XP_011534980.1:p.Arg434Trp | |
| XM_011536679.1:c.394C>T | XP_011534981.1:p.Arg132Trp | |
| XR_943416.1:n.1503C>T | ||
| XM_011536675.2:c.1300C>T | XP_011534977.1:p.Arg434Trp | |
| XM_011536676.2:c.967C>T | XP_011534978.1:p.Arg323Trp | |
| XM_011536677.3:c.841C>T | XP_011534979.1:p.Arg281Trp | |
| XR_001750279.1:n.1500C>T | ||
| XR_001750282.1:n.1953C>T | ||
| XR_943416.3:n.1501C>T | ||
| NM_013382.6:c.1300C>T | NP_037514.2:p.Arg434Trp | |
| NM_013382.7:c.1300C>T MANE Select | NP_037514.2:p.Arg434Trp |