Linked Data
ClinVar Variation Id:
1088087
ClinVar RCV Id:
RCV001406418
dbSNP Id:
rs951171938
gnomAD v2:
14-77744844-C-T
gnomAD v3:
14-77278501-C-T
gnomAD v4:
14-77278501-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278501C>T , CM000676.2:g.77278501C>T | GRCh38 |
| NC_000014.8:g.77744844C>T , CM000676.1:g.77744844C>T | GRCh37 |
| NC_000014.7:g.76814597C>T | NCBI36 |
| NG_008897.1:g.47382G>A , LRG_844:g.47382G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.965G>A | ||
| ENST00000556394.2:c.1581G>A | ENSP00000451967.2:p.Leu527= | |
| ENST00000682247.1:c.2029G>A | ENSP00000507213.1:p.Val677Met | |
| ENST00000682395.1:n.2504G>A | ||
| ENST00000682459.1:n.1743G>A | ||
| ENST00000682467.1:c.1899G>A | ENSP00000508062.1:p.Leu633= | |
| ENST00000682795.1:c.2187G>A | ENSP00000507574.1:p.Leu729= | |
| ENST00000682895.1:n.1756G>A | ||
| ENST00000682955.1:n.1614G>A | ||
| ENST00000683188.1:c.2301G>A | ||
| ENST00000683380.1:n.1704G>A | ||
| ENST00000683907.1:c.305G>A | ENSP00000507754.1:n.305G>A | |
| ENST00000684259.1:n.3807G>A | ||
| ENST00000684538.1:n.1419G>A | ||
| ENST00000684549.1:n.1591G>A | ||
| ENST00000261534.9:c.2040G>A MANE Select | ENSP00000261534.4:p.Leu680= | |
| ENST00000261534.8:c.2040G>A | ENSP00000261534.4:p.Leu680= | |
| ENST00000452340.7:n.3016G>A | ||
| ENST00000554767.5:n.2826G>A | ||
| ENST00000555710.1:c.401G>A | ENSP00000451730.1:n.401G>A | |
| ENST00000556394.1:c.95G>A | ||
| ENST00000556446.1:n.341G>A | ||
| ENST00000602717.5:c.255G>A | ENSP00000487704.1:p.Leu85= | |
| NM_013382.5:c.2040G>A , LRG_844t1:c.2040G>A | NP_037514.2:p.Leu680= | |
| XM_011536675.1:c.2229G>A | XP_011534977.1:p.Leu743= | |
| XM_011536676.1:c.1896G>A | XP_011534978.1:p.Leu632= | |
| XM_011536677.1:c.1770G>A | XP_011534979.1:p.Leu590= | |
| XM_011536679.1:c.1323G>A | XP_011534981.1:p.Leu441= | |
| XR_943416.1:n.2293G>A | ||
| XM_011536675.2:c.2229G>A | XP_011534977.1:p.Leu743= | |
| XM_011536676.2:c.1896G>A | XP_011534978.1:p.Leu632= | |
| XM_011536677.3:c.1770G>A | XP_011534979.1:p.Leu590= | |
| XR_001750279.1:n.2326G>A | ||
| XR_001750282.1:n.2979G>A | ||
| XR_943416.3:n.2291G>A | ||
| NM_013382.6:c.2040G>A | NP_037514.2:p.Leu680= | |
| NM_013382.7:c.2040G>A MANE Select | NP_037514.2:p.Leu680= |