Linked Data
dbSNP Id:
rs1206233497
gnomAD v2:
14-77767432-C-T
gnomAD v4:
14-77301089-C-T
COSMIC:
COSM223715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77301089C>T , CM000676.2:g.77301089C>T | GRCh38 |
| NC_000014.8:g.77767432C>T , CM000676.1:g.77767432C>T | GRCh37 |
| NC_000014.7:g.76837185C>T | NCBI36 |
| NG_008897.1:g.24794G>A , LRG_844:g.24794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.269+1G>A | ENSP00000508202.1:n.269+1G>A | |
| ENST00000556394.2:c.358-1528G>A | ENSP00000451967.2:n.358-1528G>A | |
| ENST00000557289.2:c.160+1G>A | ||
| ENST00000682247.1:c.816+1G>A | ENSP00000507213.1:n.816+1G>A | |
| ENST00000682382.1:c.496-2318G>A | ||
| ENST00000682395.1:n.545+1G>A | ||
| ENST00000682459.1:n.480+1G>A | ||
| ENST00000682467.1:c.816+1G>A | ENSP00000508062.1:n.816+1G>A | |
| ENST00000682795.1:c.816+1G>A | ENSP00000507574.1:n.816+1G>A | |
| ENST00000682895.1:n.532+1G>A | ||
| ENST00000682955.1:n.212-2318G>A | ||
| ENST00000683167.1:c.160+1G>A | ||
| ENST00000683188.1:c.343-1528G>A | ||
| ENST00000683300.1:c.109+3603G>A | ENSP00000507630.1:n.109+3603G>A | |
| ENST00000683328.1:c.109+3603G>A | ENSP00000508096.1:n.109+3603G>A | |
| ENST00000683380.1:n.480+1G>A | ||
| ENST00000683398.1:c.160+1G>A | ||
| ENST00000683551.1:c.109+1746G>A | ||
| ENST00000683828.1:c.526-1528G>A | ||
| ENST00000684259.1:n.667+1G>A | ||
| ENST00000684549.1:n.368-1528G>A | ||
| ENST00000684554.1:c.160+1G>A | ||
| ENST00000261534.9:c.816+1G>A MANE Select | ENSP00000261534.4:n.816+1G>A | |
| ENST00000261534.8:c.816+1G>A | ENSP00000261534.4:n.816+1G>A | |
| ENST00000452340.7:n.839+1G>A | ||
| ENST00000553863.5:n.480+1G>A | ||
| ENST00000554767.5:n.75G>A | ||
| ENST00000555675.5:n.533G>A | ||
| ENST00000556326.5:c.*482+1G>A | ENSP00000450630.1:n.*482+1G>A | |
| ENST00000557289.1:c.56-1528G>A | ENSP00000451115.1:n.56-1528G>A | |
| NM_013382.5:c.816+1G>A , LRG_844t1:c.816+1G>A | NP_037514.2:n.816+1G>A | |
| XM_011536675.1:c.816+1G>A | XP_011534977.1:n.816+1G>A | |
| XM_011536676.1:c.483+1G>A | XP_011534978.1:n.483+1G>A | |
| XM_011536677.1:c.547+3603G>A | XP_011534979.1:n.547+3603G>A | |
| XM_011536678.1:c.816+1G>A | XP_011534980.1:n.816+1G>A | |
| XM_011536679.1:c.-90-1528G>A | XP_011534981.1:n.-90-1528G>A | |
| XM_011536680.1:c.816+1G>A | XP_011534982.1:n.816+1G>A | |
| XR_943416.1:n.1019+1G>A | ||
| XM_011536675.2:c.816+1G>A | XP_011534977.1:n.816+1G>A | |
| XM_011536676.2:c.483+1G>A | XP_011534978.1:n.483+1G>A | |
| XM_011536677.3:c.547+3603G>A | XP_011534979.1:n.547+3603G>A | |
| XR_001750279.1:n.1016+1G>A | ||
| XR_001750282.1:n.1020+1G>A | ||
| XR_943416.3:n.1017+1G>A | ||
| NM_013382.6:c.816+1G>A | NP_037514.2:n.816+1G>A | |
| NM_013382.7:c.816+1G>A MANE Select | NP_037514.2:n.816+1G>A |