Linked Data
ClinVar Variation Id:
79628
dbSNP Id:
rs141339355
ExAC:
14:77762578 G / A
gnomAD v2:
14-77762578-G-A
gnomAD v3:
14-77296235-G-A
gnomAD v4:
14-77296235-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77296235G>A , CM000676.2:g.77296235G>A | GRCh38 |
| NC_000014.8:g.77762578G>A , CM000676.1:g.77762578G>A | GRCh37 |
| NC_000014.7:g.76832331G>A | NCBI36 |
| NG_008897.1:g.29648C>T , LRG_844:g.29648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.586C>T | ENSP00000451967.2:p.Arg196Trp | |
| ENST00000557289.2:c.343C>T | ||
| ENST00000682247.1:c.1045C>T | ENSP00000507213.1:p.Arg349Trp | |
| ENST00000682382.1:c.617C>T | ||
| ENST00000682395.1:n.774C>T | ||
| ENST00000682459.1:n.709C>T | ||
| ENST00000682467.1:c.1045C>T | ENSP00000508062.1:p.Arg349Trp | |
| ENST00000682795.1:c.1045C>T | ENSP00000507574.1:p.Arg349Trp | |
| ENST00000682895.1:n.761C>T | ||
| ENST00000682955.1:n.333C>T | ||
| ENST00000683188.1:c.571C>T | ||
| ENST00000683285.1:c.39C>T | ||
| ENST00000683300.1:c.148C>T | ENSP00000507630.1:p.Arg50Trp | |
| ENST00000683328.1:c.110-4855C>T | ENSP00000508096.1:n.110-4855C>T | |
| ENST00000683380.1:n.709C>T | ||
| ENST00000683721.1:n.69C>T | ||
| ENST00000683828.1:c.754C>T | ||
| ENST00000684259.1:n.896C>T | ||
| ENST00000684528.1:c.39C>T | ||
| ENST00000684549.1:n.596C>T | ||
| ENST00000684554.1:c.282C>T | ||
| ENST00000261534.9:c.1045C>T MANE Select | ENSP00000261534.4:p.Arg349Trp | |
| ENST00000261534.8:c.1045C>T | ENSP00000261534.4:p.Arg349Trp | |
| ENST00000452340.7:n.1068C>T | ||
| ENST00000554767.5:n.1831C>T | ||
| ENST00000557289.1:c.284C>T | ENSP00000451115.1:n.284C>T | |
| ENST00000557675.5:n.135C>T | ||
| NM_013382.5:c.1045C>T , LRG_844t1:c.1045C>T | NP_037514.2:p.Arg349Trp | |
| XM_011536675.1:c.1045C>T | XP_011534977.1:p.Arg349Trp | |
| XM_011536676.1:c.712C>T | XP_011534978.1:p.Arg238Trp | |
| XM_011536677.1:c.586C>T | XP_011534979.1:p.Arg196Trp | |
| XM_011536678.1:c.1045C>T | XP_011534980.1:p.Arg349Trp | |
| XM_011536679.1:c.139C>T | XP_011534981.1:p.Arg47Trp | |
| XM_011536680.1:c.1045C>T | XP_011534982.1:p.Arg349Trp | |
| XR_943416.1:n.1248C>T | ||
| XM_011536675.2:c.1045C>T | XP_011534977.1:p.Arg349Trp | |
| XM_011536676.2:c.712C>T | XP_011534978.1:p.Arg238Trp | |
| XM_011536677.3:c.586C>T | XP_011534979.1:p.Arg196Trp | |
| XR_001750279.1:n.1245C>T | ||
| XR_001750282.1:n.1249C>T | ||
| XR_943416.3:n.1246C>T | ||
| NM_013382.6:c.1045C>T | NP_037514.2:p.Arg349Trp | |
| NM_013382.7:c.1045C>T MANE Select | NP_037514.2:p.Arg349Trp |