Linked Data
ClinVar Variation Id:
289683
dbSNP Id:
rs775932206
ExAC:
14:77765080 G / A
gnomAD v2:
14-77765080-G-A
gnomAD v4:
14-77298737-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77298737G>A , CM000676.2:g.77298737G>A | GRCh38 |
| NC_000014.8:g.77765080G>A , CM000676.1:g.77765080G>A | GRCh37 |
| NC_000014.7:g.76834833G>A | NCBI36 |
| NG_008897.1:g.27146C>T , LRG_844:g.27146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.499C>T | ENSP00000451967.2:p.Gln167Ter | |
| ENST00000557289.2:c.256C>T | ||
| ENST00000682247.1:c.958C>T | ENSP00000507213.1:p.Gln320Ter | |
| ENST00000682382.1:c.530C>T | ||
| ENST00000682395.1:n.687C>T | ||
| ENST00000682459.1:n.622C>T | ||
| ENST00000682467.1:c.958C>T | ENSP00000508062.1:p.Gln320Ter | |
| ENST00000682795.1:c.958C>T | ENSP00000507574.1:p.Gln320Ter | |
| ENST00000682895.1:n.674C>T | ||
| ENST00000682955.1:n.246C>T | ||
| ENST00000683188.1:c.484C>T | ||
| ENST00000683300.1:c.110-2464C>T | ENSP00000507630.1:n.110-2464C>T | |
| ENST00000683328.1:c.109+5955C>T | ENSP00000508096.1:n.109+5955C>T | |
| ENST00000683380.1:n.622C>T | ||
| ENST00000683551.1:c.144C>T | ||
| ENST00000683828.1:c.667C>T | ||
| ENST00000684259.1:n.809C>T | ||
| ENST00000684549.1:n.509C>T | ||
| ENST00000684554.1:c.195C>T | ||
| ENST00000261534.9:c.958C>T MANE Select | ENSP00000261534.4:p.Gln320Ter | |
| ENST00000261534.8:c.958C>T | ENSP00000261534.4:p.Gln320Ter | |
| ENST00000452340.7:n.981C>T | ||
| ENST00000554767.5:n.1744C>T | ||
| ENST00000557289.1:c.197C>T | ENSP00000451115.1:n.197C>T | |
| NM_013382.5:c.958C>T , LRG_844t1:c.958C>T | NP_037514.2:p.Gln320Ter | |
| XM_011536675.1:c.958C>T | XP_011534977.1:p.Gln320Ter | |
| XM_011536676.1:c.625C>T | XP_011534978.1:p.Gln209Ter | |
| XM_011536677.1:c.548-2464C>T | XP_011534979.1:n.548-2464C>T | |
| XM_011536678.1:c.958C>T | XP_011534980.1:p.Gln320Ter | |
| XM_011536679.1:c.52C>T | XP_011534981.1:p.Gln18Ter | |
| XM_011536680.1:c.958C>T | XP_011534982.1:p.Gln320Ter | |
| XR_943416.1:n.1161C>T | ||
| XM_011536675.2:c.958C>T | XP_011534977.1:p.Gln320Ter | |
| XM_011536676.2:c.625C>T | XP_011534978.1:p.Gln209Ter | |
| XM_011536677.3:c.548-2464C>T | XP_011534979.1:n.548-2464C>T | |
| XR_001750279.1:n.1158C>T | ||
| XR_001750282.1:n.1162C>T | ||
| XR_943416.3:n.1159C>T | ||
| NM_013382.6:c.958C>T | NP_037514.2:p.Gln320Ter | |
| NM_013382.7:c.958C>T MANE Select | NP_037514.2:p.Gln320Ter |