Linked Data
ClinVar Variation Id:
757227
ClinVar RCV Id:
RCV001438152
dbSNP Id:
rs1594883867
gnomAD v4:
14-77278859-C-T
MyVariant Identifiers:
chr14:g.77745202C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278859C>T , CM000676.2:g.77278859C>T | GRCh38 |
| NC_000014.8:g.77745202C>T , CM000676.1:g.77745202C>T | GRCh37 |
| NC_000014.7:g.76814955C>T | NCBI36 |
| NG_008897.1:g.47024G>A , LRG_844:g.47024G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.827G>A | ||
| ENST00000556394.2:c.1443G>A | ENSP00000451967.2:p.Gln481= | |
| ENST00000682128.1:c.203G>A | ENSP00000506976.1:n.203G>A | |
| ENST00000682247.1:c.1892-1G>A | ENSP00000507213.1:n.1892-1G>A | |
| ENST00000682395.1:n.2366G>A | ||
| ENST00000682459.1:n.1605G>A | ||
| ENST00000682467.1:c.1892-351G>A | ENSP00000508062.1:n.1892-351G>A | |
| ENST00000682615.1:n.256G>A | ||
| ENST00000682795.1:c.2049G>A | ENSP00000507574.1:p.Gln683= | |
| ENST00000682895.1:n.1618G>A | ||
| ENST00000682955.1:n.1476G>A | ||
| ENST00000683095.1:c.308G>A | ENSP00000508040.1:n.308G>A | |
| ENST00000683188.1:c.2163G>A | ||
| ENST00000683380.1:n.1566G>A | ||
| ENST00000683828.1:c.1611G>A | ||
| ENST00000683907.1:c.167G>A | ENSP00000507754.1:p.Arg56Lys | |
| ENST00000684172.1:c.278G>A | ENSP00000508391.1:n.278G>A | |
| ENST00000684259.1:n.3669G>A | ||
| ENST00000684538.1:n.1281G>A | ||
| ENST00000684549.1:n.1453G>A | ||
| ENST00000261534.9:c.1902G>A MANE Select | ENSP00000261534.4:p.Gln634= | |
| ENST00000261534.8:c.1902G>A | ENSP00000261534.4:p.Gln634= | |
| ENST00000452340.7:n.2878G>A | ||
| ENST00000554767.5:n.2688G>A | ||
| ENST00000555134.1:n.827G>A | ||
| ENST00000555710.1:c.263G>A | ENSP00000451730.1:n.263G>A | |
| ENST00000556171.1:c.494G>A | ||
| ENST00000556394.1:c.88-351G>A | ||
| ENST00000556446.1:n.203G>A | ||
| ENST00000602717.5:c.117G>A | ENSP00000487704.1:p.Gln39= | |
| NM_013382.5:c.1902G>A , LRG_844t1:c.1902G>A | NP_037514.2:p.Gln634= | |
| XM_011536675.1:c.2091G>A | XP_011534977.1:p.Gln697= | |
| XM_011536676.1:c.1758G>A | XP_011534978.1:p.Gln586= | |
| XM_011536677.1:c.1632G>A | XP_011534979.1:p.Gln544= | |
| XM_011536679.1:c.1185G>A | XP_011534981.1:p.Gln395= | |
| XR_943416.1:n.2155G>A | ||
| XM_011536675.2:c.2091G>A | XP_011534977.1:p.Gln697= | |
| XM_011536676.2:c.1758G>A | XP_011534978.1:p.Gln586= | |
| XM_011536677.3:c.1632G>A | XP_011534979.1:p.Gln544= | |
| XR_001750279.1:n.2188G>A | ||
| XR_001750282.1:n.2841G>A | ||
| XR_943416.3:n.2153G>A | ||
| NM_013382.6:c.1902G>A | NP_037514.2:p.Gln634= | |
| NM_013382.7:c.1902G>A MANE Select | NP_037514.2:p.Gln634= |