Linked Data
ClinVar Variation Id:
288652
dbSNP Id:
rs765276419
ExAC:
14:77767454 G / A
gnomAD v2:
14-77767454-G-A
gnomAD v3:
14-77301111-G-A
gnomAD v4:
14-77301111-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77301111G>A , CM000676.2:g.77301111G>A | GRCh38 |
| NC_000014.8:g.77767454G>A , CM000676.1:g.77767454G>A | GRCh37 |
| NC_000014.7:g.76837207G>A | NCBI36 |
| NG_008897.1:g.24772C>T , LRG_844:g.24772C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.248C>T | ENSP00000508202.1:n.248C>T | |
| ENST00000556394.2:c.358-1550C>T | ENSP00000451967.2:n.358-1550C>T | |
| ENST00000557289.2:c.139C>T | ||
| ENST00000682247.1:c.795C>T | ENSP00000507213.1:p.Phe265= | |
| ENST00000682382.1:c.496-2340C>T | ||
| ENST00000682395.1:n.524C>T | ||
| ENST00000682459.1:n.459C>T | ||
| ENST00000682467.1:c.795C>T | ENSP00000508062.1:p.Phe265= | |
| ENST00000682795.1:c.795C>T | ENSP00000507574.1:p.Phe265= | |
| ENST00000682895.1:n.511C>T | ||
| ENST00000682955.1:n.212-2340C>T | ||
| ENST00000683167.1:c.139C>T | ||
| ENST00000683188.1:c.343-1550C>T | ||
| ENST00000683300.1:c.109+3581C>T | ENSP00000507630.1:n.109+3581C>T | |
| ENST00000683328.1:c.109+3581C>T | ENSP00000508096.1:n.109+3581C>T | |
| ENST00000683380.1:n.459C>T | ||
| ENST00000683398.1:c.139C>T | ||
| ENST00000683551.1:c.109+1724C>T | ||
| ENST00000683828.1:c.526-1550C>T | ||
| ENST00000684259.1:n.646C>T | ||
| ENST00000684549.1:n.368-1550C>T | ||
| ENST00000684554.1:c.139C>T | ||
| ENST00000261534.9:c.795C>T MANE Select | ENSP00000261534.4:p.Phe265= | |
| ENST00000261534.8:c.795C>T | ENSP00000261534.4:p.Phe265= | |
| ENST00000452340.7:n.818C>T | ||
| ENST00000553863.5:n.459C>T | ||
| ENST00000554767.5:n.53C>T | ||
| ENST00000555675.5:n.511C>T | ||
| ENST00000556326.5:c.*461C>T | ENSP00000450630.1:n.*461C>T | |
| ENST00000557289.1:c.56-1550C>T | ENSP00000451115.1:n.56-1550C>T | |
| NM_013382.5:c.795C>T , LRG_844t1:c.795C>T | NP_037514.2:p.Phe265= | |
| XM_011536675.1:c.795C>T | XP_011534977.1:p.Phe265= | |
| XM_011536676.1:c.462C>T | XP_011534978.1:p.Phe154= | |
| XM_011536677.1:c.547+3581C>T | XP_011534979.1:n.547+3581C>T | |
| XM_011536678.1:c.795C>T | XP_011534980.1:p.Phe265= | |
| XM_011536679.1:c.-90-1550C>T | XP_011534981.1:n.-90-1550C>T | |
| XM_011536680.1:c.795C>T | XP_011534982.1:p.Phe265= | |
| XR_943416.1:n.998C>T | ||
| XM_011536675.2:c.795C>T | XP_011534977.1:p.Phe265= | |
| XM_011536676.2:c.462C>T | XP_011534978.1:p.Phe154= | |
| XM_011536677.3:c.547+3581C>T | XP_011534979.1:n.547+3581C>T | |
| XR_001750279.1:n.995C>T | ||
| XR_001750282.1:n.999C>T | ||
| XR_943416.3:n.996C>T | ||
| NM_013382.6:c.795C>T | NP_037514.2:p.Phe265= | |
| NM_013382.7:c.795C>T MANE Select | NP_037514.2:p.Phe265= |