Linked Data
ClinVar Variation Id:
3219
dbSNP Id:
rs533916138
ExAC:
14:77765031 C / T
gnomAD v2:
14-77765031-C-T
gnomAD v3:
14-77298688-C-T
gnomAD v4:
14-77298688-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77298688C>T , CM000676.2:g.77298688C>T | GRCh38 |
| NC_000014.8:g.77765031C>T , CM000676.1:g.77765031C>T | GRCh37 |
| NC_000014.7:g.76834784C>T | NCBI36 |
| NG_008897.1:g.27195G>A , LRG_844:g.27195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.547+1G>A | ENSP00000451967.2:n.547+1G>A | |
| ENST00000557289.2:c.304+1G>A | ||
| ENST00000682247.1:c.1006+1G>A | ENSP00000507213.1:n.1006+1G>A | |
| ENST00000682382.1:c.578+1G>A | ||
| ENST00000682395.1:n.735+1G>A | ||
| ENST00000682459.1:n.670+1G>A | ||
| ENST00000682467.1:c.1006+1G>A | ENSP00000508062.1:n.1006+1G>A | |
| ENST00000682795.1:c.1006+1G>A | ENSP00000507574.1:n.1006+1G>A | |
| ENST00000682895.1:n.722+1G>A | ||
| ENST00000682955.1:n.294+1G>A | ||
| ENST00000683188.1:c.532+1G>A | ||
| ENST00000683300.1:c.110-2415G>A | ENSP00000507630.1:n.110-2415G>A | |
| ENST00000683328.1:c.109+6004G>A | ENSP00000508096.1:n.109+6004G>A | |
| ENST00000683380.1:n.670+1G>A | ||
| ENST00000683828.1:c.715+1G>A | ||
| ENST00000684259.1:n.857+1G>A | ||
| ENST00000684549.1:n.557+1G>A | ||
| ENST00000684554.1:c.243+1G>A | ||
| ENST00000261534.9:c.1006+1G>A MANE Select | ENSP00000261534.4:n.1006+1G>A | |
| ENST00000261534.8:c.1006+1G>A | ENSP00000261534.4:n.1006+1G>A | |
| ENST00000452340.7:n.1029+1G>A | ||
| ENST00000554767.5:n.1792+1G>A | ||
| ENST00000557289.1:c.245+1G>A | ENSP00000451115.1:n.245+1G>A | |
| NM_013382.5:c.1006+1G>A , LRG_844t1:c.1006+1G>A | NP_037514.2:n.1006+1G>A | |
| XM_011536675.1:c.1006+1G>A | XP_011534977.1:n.1006+1G>A | |
| XM_011536676.1:c.673+1G>A | XP_011534978.1:n.673+1G>A | |
| XM_011536677.1:c.548-2415G>A | XP_011534979.1:n.548-2415G>A | |
| XM_011536678.1:c.1006+1G>A | XP_011534980.1:n.1006+1G>A | |
| XM_011536679.1:c.100+1G>A | XP_011534981.1:n.100+1G>A | |
| XM_011536680.1:c.1006+1G>A | XP_011534982.1:n.1006+1G>A | |
| XR_943416.1:n.1209+1G>A | ||
| XM_011536675.2:c.1006+1G>A | XP_011534977.1:n.1006+1G>A | |
| XM_011536676.2:c.673+1G>A | XP_011534978.1:n.673+1G>A | |
| XM_011536677.3:c.548-2415G>A | XP_011534979.1:n.548-2415G>A | |
| XR_001750279.1:n.1206+1G>A | ||
| XR_001750282.1:n.1210+1G>A | ||
| XR_943416.3:n.1207+1G>A | ||
| NM_013382.6:c.1006+1G>A | NP_037514.2:n.1006+1G>A | |
| NM_013382.7:c.1006+1G>A MANE Select | NP_037514.2:n.1006+1G>A |