Linked Data
ClinVar Variation Id:
286812
dbSNP Id:
rs139308429
gnomAD v2:
14-77744801-A-G
gnomAD v4:
14-77278458-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278458A>G , CM000676.2:g.77278458A>G | GRCh38 |
| NC_000014.8:g.77744801A>G , CM000676.1:g.77744801A>G | GRCh37 |
| NC_000014.7:g.76814554A>G | NCBI36 |
| NG_008897.1:g.47425T>C , LRG_844:g.47425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.1008T>C | ||
| ENST00000556394.2:c.1624T>C | ENSP00000451967.2:p.Trp542Arg | |
| ENST00000682247.1:c.2072T>C | ENSP00000507213.1:p.Met691Thr | |
| ENST00000682395.1:n.2547T>C | ||
| ENST00000682459.1:n.1786T>C | ||
| ENST00000682467.1:c.1942T>C | ENSP00000508062.1:p.Trp648Arg | |
| ENST00000682795.1:c.2230T>C | ENSP00000507574.1:p.Trp744Arg | |
| ENST00000682895.1:n.1799T>C | ||
| ENST00000682955.1:n.1657T>C | ||
| ENST00000683188.1:c.2344T>C | ||
| ENST00000683380.1:n.1747T>C | ||
| ENST00000683907.1:c.348T>C | ENSP00000507754.1:n.348T>C | |
| ENST00000684259.1:n.3850T>C | ||
| ENST00000684538.1:n.1462T>C | ||
| ENST00000684549.1:n.1634T>C | ||
| ENST00000261534.9:c.2083T>C MANE Select | ENSP00000261534.4:p.Trp695Arg | |
| ENST00000261534.8:c.2083T>C | ENSP00000261534.4:p.Trp695Arg | |
| ENST00000452340.7:n.3059T>C | ||
| ENST00000554767.5:n.2869T>C | ||
| ENST00000555710.1:c.444T>C | ENSP00000451730.1:n.444T>C | |
| ENST00000556394.1:c.138T>C | ||
| ENST00000556446.1:n.384T>C | ||
| ENST00000602717.5:c.298T>C | ENSP00000487704.1:p.Trp100Arg | |
| NM_013382.5:c.2083T>C , LRG_844t1:c.2083T>C | NP_037514.2:p.Trp695Arg | |
| XM_011536675.1:c.2272T>C | XP_011534977.1:p.Trp758Arg | |
| XM_011536676.1:c.1939T>C | XP_011534978.1:p.Trp647Arg | |
| XM_011536677.1:c.1813T>C | XP_011534979.1:p.Trp605Arg | |
| XM_011536679.1:c.1366T>C | XP_011534981.1:p.Trp456Arg | |
| XR_943416.1:n.2336T>C | ||
| XM_011536675.2:c.2272T>C | XP_011534977.1:p.Trp758Arg | |
| XM_011536676.2:c.1939T>C | XP_011534978.1:p.Trp647Arg | |
| XM_011536677.3:c.1813T>C | XP_011534979.1:p.Trp605Arg | |
| XR_001750279.1:n.2369T>C | ||
| XR_001750282.1:n.3022T>C | ||
| XR_943416.3:n.2334T>C | ||
| NM_013382.6:c.2083T>C | NP_037514.2:p.Trp695Arg | |
| NM_013382.7:c.2083T>C MANE Select | NP_037514.2:p.Trp695Arg |