Linked Data
ClinVar Variation Id:
314559
dbSNP Id:
rs764462802
ExAC:
14:77765120 G / A
gnomAD v2:
14-77765120-G-A
gnomAD v4:
14-77298777-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77298777G>A , CM000676.2:g.77298777G>A | GRCh38 |
| NC_000014.8:g.77765120G>A , CM000676.1:g.77765120G>A | GRCh37 |
| NC_000014.7:g.76834873G>A | NCBI36 |
| NG_008897.1:g.27106C>T , LRG_844:g.27106C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.465-6C>T | ENSP00000451967.2:n.465-6C>T | |
| ENST00000557289.2:c.222-6C>T | ||
| ENST00000682247.1:c.924-6C>T | ENSP00000507213.1:n.924-6C>T | |
| ENST00000682382.1:c.496-6C>T | ||
| ENST00000682395.1:n.653-6C>T | ||
| ENST00000682459.1:n.588-6C>T | ||
| ENST00000682467.1:c.924-6C>T | ENSP00000508062.1:n.924-6C>T | |
| ENST00000682795.1:c.924-6C>T | ENSP00000507574.1:n.924-6C>T | |
| ENST00000682895.1:n.640-6C>T | ||
| ENST00000682955.1:n.212-6C>T | ||
| ENST00000683188.1:c.450-6C>T | ||
| ENST00000683300.1:c.110-2504C>T | ENSP00000507630.1:n.110-2504C>T | |
| ENST00000683328.1:c.109+5915C>T | ENSP00000508096.1:n.109+5915C>T | |
| ENST00000683380.1:n.588-6C>T | ||
| ENST00000683551.1:c.110-6C>T | ||
| ENST00000683828.1:c.633-6C>T | ||
| ENST00000684259.1:n.775-6C>T | ||
| ENST00000684549.1:n.475-6C>T | ||
| ENST00000684554.1:c.161-6C>T | ||
| ENST00000261534.9:c.924-6C>T MANE Select | ENSP00000261534.4:n.924-6C>T | |
| ENST00000261534.8:c.924-6C>T | ENSP00000261534.4:n.924-6C>T | |
| ENST00000452340.7:n.947-6C>T | ||
| ENST00000554767.5:n.1710-6C>T | ||
| ENST00000557289.1:c.163-6C>T | ENSP00000451115.1:n.163-6C>T | |
| NM_013382.5:c.924-6C>T , LRG_844t1:c.924-6C>T | NP_037514.2:n.924-6C>T | |
| XM_011536675.1:c.924-6C>T | XP_011534977.1:n.924-6C>T | |
| XM_011536676.1:c.591-6C>T | XP_011534978.1:n.591-6C>T | |
| XM_011536677.1:c.548-2504C>T | XP_011534979.1:n.548-2504C>T | |
| XM_011536678.1:c.924-6C>T | XP_011534980.1:n.924-6C>T | |
| XM_011536679.1:c.18-6C>T | XP_011534981.1:n.18-6C>T | |
| XM_011536680.1:c.924-6C>T | XP_011534982.1:n.924-6C>T | |
| XR_943416.1:n.1127-6C>T | ||
| XM_011536675.2:c.924-6C>T | XP_011534977.1:n.924-6C>T | |
| XM_011536676.2:c.591-6C>T | XP_011534978.1:n.591-6C>T | |
| XM_011536677.3:c.548-2504C>T | XP_011534979.1:n.548-2504C>T | |
| XR_001750279.1:n.1124-6C>T | ||
| XR_001750282.1:n.1128-6C>T | ||
| XR_943416.3:n.1125-6C>T | ||
| NM_013382.6:c.924-6C>T | NP_037514.2:n.924-6C>T | |
| NM_013382.7:c.924-6C>T MANE Select | NP_037514.2:n.924-6C>T |