Linked Data
ClinVar Variation Id:
1005746
dbSNP Id:
rs779390236
ExAC:
14:77745191 C / T
gnomAD v2:
14-77745191-C-T
gnomAD v3:
14-77278848-C-T
gnomAD v4:
14-77278848-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278848C>T , CM000676.2:g.77278848C>T | GRCh38 |
| NC_000014.8:g.77745191C>T , CM000676.1:g.77745191C>T | GRCh37 |
| NC_000014.7:g.76814944C>T | NCBI36 |
| NG_008897.1:g.47035G>A , LRG_844:g.47035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.838G>A | ||
| ENST00000556394.2:c.1454G>A | ENSP00000451967.2:p.Arg485Gln | |
| ENST00000682128.1:c.214G>A | ENSP00000506976.1:n.214G>A | |
| ENST00000682247.1:c.1902G>A | ENSP00000507213.1:p.Ser634= | |
| ENST00000682395.1:n.2377G>A | ||
| ENST00000682459.1:n.1616G>A | ||
| ENST00000682467.1:c.1892-340G>A | ENSP00000508062.1:n.1892-340G>A | |
| ENST00000682615.1:n.267G>A | ||
| ENST00000682795.1:c.2060G>A | ENSP00000507574.1:p.Arg687Gln | |
| ENST00000682895.1:n.1629G>A | ||
| ENST00000682955.1:n.1487G>A | ||
| ENST00000683095.1:c.319G>A | ENSP00000508040.1:n.319G>A | |
| ENST00000683188.1:c.2174G>A | ||
| ENST00000683380.1:n.1577G>A | ||
| ENST00000683828.1:c.1622G>A | ||
| ENST00000683907.1:c.178G>A | ENSP00000507754.1:p.Glu60Lys | |
| ENST00000684172.1:c.289G>A | ENSP00000508391.1:n.289G>A | |
| ENST00000684259.1:n.3680G>A | ||
| ENST00000684538.1:n.1292G>A | ||
| ENST00000684549.1:n.1464G>A | ||
| ENST00000261534.9:c.1913G>A MANE Select | ENSP00000261534.4:p.Arg638Gln | |
| ENST00000261534.8:c.1913G>A | ENSP00000261534.4:p.Arg638Gln | |
| ENST00000452340.7:n.2889G>A | ||
| ENST00000554767.5:n.2699G>A | ||
| ENST00000555134.1:n.838G>A | ||
| ENST00000555710.1:c.274G>A | ENSP00000451730.1:n.274G>A | |
| ENST00000556171.1:c.505G>A | ||
| ENST00000556394.1:c.88-340G>A | ||
| ENST00000556446.1:n.214G>A | ||
| ENST00000602717.5:c.128G>A | ENSP00000487704.1:p.Arg43Gln | |
| NM_013382.5:c.1913G>A , LRG_844t1:c.1913G>A | NP_037514.2:p.Arg638Gln | |
| XM_011536675.1:c.2102G>A | XP_011534977.1:p.Arg701Gln | |
| XM_011536676.1:c.1769G>A | XP_011534978.1:p.Arg590Gln | |
| XM_011536677.1:c.1643G>A | XP_011534979.1:p.Arg548Gln | |
| XM_011536679.1:c.1196G>A | XP_011534981.1:p.Arg399Gln | |
| XR_943416.1:n.2166G>A | ||
| XM_011536675.2:c.2102G>A | XP_011534977.1:p.Arg701Gln | |
| XM_011536676.2:c.1769G>A | XP_011534978.1:p.Arg590Gln | |
| XM_011536677.3:c.1643G>A | XP_011534979.1:p.Arg548Gln | |
| XR_001750279.1:n.2199G>A | ||
| XR_001750282.1:n.2852G>A | ||
| XR_943416.3:n.2164G>A | ||
| NM_013382.6:c.1913G>A | NP_037514.2:p.Arg638Gln | |
| NM_013382.7:c.1913G>A MANE Select | NP_037514.2:p.Arg638Gln |