Linked Data
ClinVar Variation Id:
283033
dbSNP Id:
rs780532724
ExAC:
14:77746814 A / C
gnomAD v2:
14-77746814-A-C
gnomAD v3:
14-77280471-A-C
gnomAD v4:
14-77280471-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77280471A>C , CM000676.2:g.77280471A>C | GRCh38 |
| NC_000014.8:g.77746814A>C , CM000676.1:g.77746814A>C | GRCh37 |
| NC_000014.7:g.76816567A>C | NCBI36 |
| NG_008897.1:g.45412T>G , LRG_844:g.45412T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.293-8T>G | ||
| ENST00000556394.2:c.1195-8T>G | ENSP00000451967.2:n.1195-8T>G | |
| ENST00000682247.1:c.1654-8T>G | ENSP00000507213.1:n.1654-8T>G | |
| ENST00000682382.1:c.2302-8T>G | ||
| ENST00000682395.1:n.1832-8T>G | ||
| ENST00000682459.1:n.1357-8T>G | ||
| ENST00000682467.1:c.1654-8T>G | ENSP00000508062.1:n.1654-8T>G | |
| ENST00000682560.1:c.230-8T>G | ENSP00000507033.1:n.230-8T>G | |
| ENST00000682795.1:c.1654-8T>G | ENSP00000507574.1:n.1654-8T>G | |
| ENST00000682895.1:n.1370-8T>G | ||
| ENST00000682925.1:c.144-8T>G | ||
| ENST00000682955.1:n.942-8T>G | ||
| ENST00000683188.1:c.1629-8T>G | ||
| ENST00000683380.1:n.1318-8T>G | ||
| ENST00000683828.1:c.1363-8T>G | ||
| ENST00000684259.1:n.2468-8T>G | ||
| ENST00000684538.1:n.72T>G | ||
| ENST00000684549.1:n.1205-8T>G | ||
| ENST00000261534.9:c.1654-8T>G MANE Select | ENSP00000261534.4:n.1654-8T>G | |
| ENST00000261534.8:c.1654-8T>G | ENSP00000261534.4:n.1654-8T>G | |
| ENST00000452340.7:n.1677-8T>G | ||
| ENST00000554564.1:n.568-8T>G | ||
| ENST00000554767.5:n.2440-8T>G | ||
| ENST00000555134.1:n.293-8T>G | ||
| ENST00000556171.1:c.57-8T>G | ||
| NM_013382.5:c.1654-8T>G , LRG_844t1:c.1654-8T>G | NP_037514.2:n.1654-8T>G | |
| XM_011536675.1:c.1654-8T>G | XP_011534977.1:n.1654-8T>G | |
| XM_011536676.1:c.1321-8T>G | XP_011534978.1:n.1321-8T>G | |
| XM_011536677.1:c.1195-8T>G | XP_011534979.1:n.1195-8T>G | |
| XM_011536678.1:c.1654-8T>G | XP_011534980.1:n.1654-8T>G | |
| XM_011536679.1:c.748-8T>G | XP_011534981.1:n.748-8T>G | |
| XR_943416.1:n.1857-8T>G | ||
| XM_011536675.2:c.1654-8T>G | XP_011534977.1:n.1654-8T>G | |
| XM_011536676.2:c.1321-8T>G | XP_011534978.1:n.1321-8T>G | |
| XM_011536677.3:c.1195-8T>G | XP_011534979.1:n.1195-8T>G | |
| XR_001750279.1:n.1854-8T>G | ||
| XR_001750282.1:n.2307-8T>G | ||
| XR_943416.3:n.1855-8T>G | ||
| NM_013382.6:c.1654-8T>G | NP_037514.2:n.1654-8T>G | |
| NM_013382.7:c.1654-8T>G MANE Select | NP_037514.2:n.1654-8T>G |