Linked Data
ClinVar Variation Id:
994733
dbSNP Id:
rs139308429
ExAC:
14:77744801 A / T
gnomAD v2:
14-77744801-A-T
gnomAD v3:
14-77278458-A-T
gnomAD v4:
14-77278458-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278458A>T , CM000676.2:g.77278458A>T | GRCh38 |
| NC_000014.8:g.77744801A>T , CM000676.1:g.77744801A>T | GRCh37 |
| NC_000014.7:g.76814554A>T | NCBI36 |
| NG_008897.1:g.47425T>A , LRG_844:g.47425T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.1008T>A | ||
| ENST00000556394.2:c.1624T>A | ENSP00000451967.2:p.Trp542Arg | |
| ENST00000682247.1:c.2072T>A | ENSP00000507213.1:p.Met691Lys | |
| ENST00000682395.1:n.2547T>A | ||
| ENST00000682459.1:n.1786T>A | ||
| ENST00000682467.1:c.1942T>A | ENSP00000508062.1:p.Trp648Arg | |
| ENST00000682795.1:c.2230T>A | ENSP00000507574.1:p.Trp744Arg | |
| ENST00000682895.1:n.1799T>A | ||
| ENST00000682955.1:n.1657T>A | ||
| ENST00000683188.1:c.2344T>A | ||
| ENST00000683380.1:n.1747T>A | ||
| ENST00000683907.1:c.348T>A | ENSP00000507754.1:n.348T>A | |
| ENST00000684259.1:n.3850T>A | ||
| ENST00000684538.1:n.1462T>A | ||
| ENST00000684549.1:n.1634T>A | ||
| ENST00000261534.9:c.2083T>A MANE Select | ENSP00000261534.4:p.Trp695Arg | |
| ENST00000261534.8:c.2083T>A | ENSP00000261534.4:p.Trp695Arg | |
| ENST00000452340.7:n.3059T>A | ||
| ENST00000554767.5:n.2869T>A | ||
| ENST00000555710.1:c.444T>A | ENSP00000451730.1:n.444T>A | |
| ENST00000556394.1:c.138T>A | ||
| ENST00000556446.1:n.384T>A | ||
| ENST00000602717.5:c.298T>A | ENSP00000487704.1:p.Trp100Arg | |
| NM_013382.5:c.2083T>A , LRG_844t1:c.2083T>A | NP_037514.2:p.Trp695Arg | |
| XM_011536675.1:c.2272T>A | XP_011534977.1:p.Trp758Arg | |
| XM_011536676.1:c.1939T>A | XP_011534978.1:p.Trp647Arg | |
| XM_011536677.1:c.1813T>A | XP_011534979.1:p.Trp605Arg | |
| XM_011536679.1:c.1366T>A | XP_011534981.1:p.Trp456Arg | |
| XR_943416.1:n.2336T>A | ||
| XM_011536675.2:c.2272T>A | XP_011534977.1:p.Trp758Arg | |
| XM_011536676.2:c.1939T>A | XP_011534978.1:p.Trp647Arg | |
| XM_011536677.3:c.1813T>A | XP_011534979.1:p.Trp605Arg | |
| XR_001750279.1:n.2369T>A | ||
| XR_001750282.1:n.3022T>A | ||
| XR_943416.3:n.2334T>A | ||
| NM_013382.6:c.2083T>A | NP_037514.2:p.Trp695Arg | |
| NM_013382.7:c.2083T>A MANE Select | NP_037514.2:p.Trp695Arg |