Linked Data
ClinVar Variation Id:
282243
dbSNP Id:
rs200163818
ExAC:
14:77744827 C / T
gnomAD v2:
14-77744827-C-T
gnomAD v3:
14-77278484-C-T
gnomAD v4:
14-77278484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278484C>T , CM000676.2:g.77278484C>T | GRCh38 |
| NC_000014.8:g.77744827C>T , CM000676.1:g.77744827C>T | GRCh37 |
| NC_000014.7:g.76814580C>T | NCBI36 |
| NG_008897.1:g.47399G>A , LRG_844:g.47399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.982G>A | ||
| ENST00000556394.2:c.1598G>A | ENSP00000451967.2:p.Arg533Gln | |
| ENST00000682247.1:c.2046G>A | ENSP00000507213.1:p.Ala682= | |
| ENST00000682395.1:n.2521G>A | ||
| ENST00000682459.1:n.1760G>A | ||
| ENST00000682467.1:c.1916G>A | ENSP00000508062.1:p.Arg639Gln | |
| ENST00000682795.1:c.2204G>A | ENSP00000507574.1:p.Arg735Gln | |
| ENST00000682895.1:n.1773G>A | ||
| ENST00000682955.1:n.1631G>A | ||
| ENST00000683188.1:c.2318G>A | ||
| ENST00000683380.1:n.1721G>A | ||
| ENST00000683907.1:c.322G>A | ENSP00000507754.1:n.322G>A | |
| ENST00000684259.1:n.3824G>A | ||
| ENST00000684538.1:n.1436G>A | ||
| ENST00000684549.1:n.1608G>A | ||
| ENST00000261534.9:c.2057G>A MANE Select | ENSP00000261534.4:p.Arg686Gln | |
| ENST00000261534.8:c.2057G>A | ENSP00000261534.4:p.Arg686Gln | |
| ENST00000452340.7:n.3033G>A | ||
| ENST00000554767.5:n.2843G>A | ||
| ENST00000555710.1:c.418G>A | ENSP00000451730.1:n.418G>A | |
| ENST00000556394.1:c.112G>A | ||
| ENST00000556446.1:n.358G>A | ||
| ENST00000602717.5:c.272G>A | ENSP00000487704.1:p.Arg91Gln | |
| NM_013382.5:c.2057G>A , LRG_844t1:c.2057G>A | NP_037514.2:p.Arg686Gln | |
| XM_011536675.1:c.2246G>A | XP_011534977.1:p.Arg749Gln | |
| XM_011536676.1:c.1913G>A | XP_011534978.1:p.Arg638Gln | |
| XM_011536677.1:c.1787G>A | XP_011534979.1:p.Arg596Gln | |
| XM_011536679.1:c.1340G>A | XP_011534981.1:p.Arg447Gln | |
| XR_943416.1:n.2310G>A | ||
| XM_011536675.2:c.2246G>A | XP_011534977.1:p.Arg749Gln | |
| XM_011536676.2:c.1913G>A | XP_011534978.1:p.Arg638Gln | |
| XM_011536677.3:c.1787G>A | XP_011534979.1:p.Arg596Gln | |
| XR_001750279.1:n.2343G>A | ||
| XR_001750282.1:n.2996G>A | ||
| XR_943416.3:n.2308G>A | ||
| NM_013382.6:c.2057G>A | NP_037514.2:p.Arg686Gln | |
| NM_013382.7:c.2057G>A MANE Select | NP_037514.2:p.Arg686Gln |