Linked Data
ClinVar Variation Id:
2435199
ClinVar RCV Id:
RCV003135114
dbSNP Id:
rs774602296
ExAC:
14:77745161 G / A
gnomAD v2:
14-77745161-G-A
gnomAD v3:
14-77278818-G-A
gnomAD v4:
14-77278818-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278818G>A , CM000676.2:g.77278818G>A | GRCh38 |
| NC_000014.8:g.77745161G>A , CM000676.1:g.77745161G>A | GRCh37 |
| NC_000014.7:g.76814914G>A | NCBI36 |
| NG_008897.1:g.47065C>T , LRG_844:g.47065C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.868C>T | ||
| ENST00000556394.2:c.1484C>T | ENSP00000451967.2:p.Thr495Ile | |
| ENST00000682128.1:c.244C>T | ENSP00000506976.1:n.244C>T | |
| ENST00000682247.1:c.1932C>T | ENSP00000507213.1:p.Asp644= | |
| ENST00000682395.1:n.2407C>T | ||
| ENST00000682459.1:n.1646C>T | ||
| ENST00000682467.1:c.1892-310C>T | ENSP00000508062.1:n.1892-310C>T | |
| ENST00000682615.1:n.297C>T | ||
| ENST00000682795.1:c.2090C>T | ENSP00000507574.1:p.Thr697Ile | |
| ENST00000682895.1:n.1659C>T | ||
| ENST00000682955.1:n.1517C>T | ||
| ENST00000683095.1:c.349C>T | ENSP00000508040.1:n.349C>T | |
| ENST00000683188.1:c.2204C>T | ||
| ENST00000683380.1:n.1607C>T | ||
| ENST00000683828.1:c.1652C>T | ||
| ENST00000683907.1:c.208C>T | ENSP00000507754.1:p.His70Tyr | |
| ENST00000684172.1:c.319C>T | ENSP00000508391.1:n.319C>T | |
| ENST00000684259.1:n.3710C>T | ||
| ENST00000684538.1:n.1322C>T | ||
| ENST00000684549.1:n.1494C>T | ||
| ENST00000261534.9:c.1943C>T MANE Select | ENSP00000261534.4:p.Thr648Ile | |
| ENST00000261534.8:c.1943C>T | ENSP00000261534.4:p.Thr648Ile | |
| ENST00000452340.7:n.2919C>T | ||
| ENST00000554767.5:n.2729C>T | ||
| ENST00000555134.1:n.868C>T | ||
| ENST00000555710.1:c.304C>T | ENSP00000451730.1:n.304C>T | |
| ENST00000556171.1:c.535C>T | ||
| ENST00000556394.1:c.88-310C>T | ||
| ENST00000556446.1:n.244C>T | ||
| ENST00000602717.5:c.158C>T | ENSP00000487704.1:p.Thr53Ile | |
| NM_013382.5:c.1943C>T , LRG_844t1:c.1943C>T | NP_037514.2:p.Thr648Ile | |
| XM_011536675.1:c.2132C>T | XP_011534977.1:p.Thr711Ile | |
| XM_011536676.1:c.1799C>T | XP_011534978.1:p.Thr600Ile | |
| XM_011536677.1:c.1673C>T | XP_011534979.1:p.Thr558Ile | |
| XM_011536679.1:c.1226C>T | XP_011534981.1:p.Thr409Ile | |
| XR_943416.1:n.2196C>T | ||
| XM_011536675.2:c.2132C>T | XP_011534977.1:p.Thr711Ile | |
| XM_011536676.2:c.1799C>T | XP_011534978.1:p.Thr600Ile | |
| XM_011536677.3:c.1673C>T | XP_011534979.1:p.Thr558Ile | |
| XR_001750279.1:n.2229C>T | ||
| XR_001750282.1:n.2882C>T | ||
| XR_943416.3:n.2194C>T | ||
| NM_013382.6:c.1943C>T | NP_037514.2:p.Thr648Ile | |
| NM_013382.7:c.1943C>T MANE Select | NP_037514.2:p.Thr648Ile |