Linked Data
ClinVar Variation Id:
2925096
ClinVar RCV Id:
RCV003780750
dbSNP Id:
rs1247412791
gnomAD v2:
14-77744829-C-T
gnomAD v3:
14-77278486-C-T
gnomAD v4:
14-77278486-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278486C>T , CM000676.2:g.77278486C>T | GRCh38 |
| NC_000014.8:g.77744829C>T , CM000676.1:g.77744829C>T | GRCh37 |
| NC_000014.7:g.76814582C>T | NCBI36 |
| NG_008897.1:g.47397G>A , LRG_844:g.47397G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.980G>A | ||
| ENST00000556394.2:c.1596G>A | ENSP00000451967.2:p.Leu532= | |
| ENST00000682247.1:c.2044G>A | ENSP00000507213.1:p.Ala682Thr | |
| ENST00000682395.1:n.2519G>A | ||
| ENST00000682459.1:n.1758G>A | ||
| ENST00000682467.1:c.1914G>A | ENSP00000508062.1:p.Leu638= | |
| ENST00000682795.1:c.2202G>A | ENSP00000507574.1:p.Leu734= | |
| ENST00000682895.1:n.1771G>A | ||
| ENST00000682955.1:n.1629G>A | ||
| ENST00000683188.1:c.2316G>A | ||
| ENST00000683380.1:n.1719G>A | ||
| ENST00000683907.1:c.320G>A | ENSP00000507754.1:n.320G>A | |
| ENST00000684259.1:n.3822G>A | ||
| ENST00000684538.1:n.1434G>A | ||
| ENST00000684549.1:n.1606G>A | ||
| ENST00000261534.9:c.2055G>A MANE Select | ENSP00000261534.4:p.Leu685= | |
| ENST00000261534.8:c.2055G>A | ENSP00000261534.4:p.Leu685= | |
| ENST00000452340.7:n.3031G>A | ||
| ENST00000554767.5:n.2841G>A | ||
| ENST00000555710.1:c.416G>A | ENSP00000451730.1:n.416G>A | |
| ENST00000556394.1:c.110G>A | ||
| ENST00000556446.1:n.356G>A | ||
| ENST00000602717.5:c.270G>A | ENSP00000487704.1:p.Leu90= | |
| NM_013382.5:c.2055G>A , LRG_844t1:c.2055G>A | NP_037514.2:p.Leu685= | |
| XM_011536675.1:c.2244G>A | XP_011534977.1:p.Leu748= | |
| XM_011536676.1:c.1911G>A | XP_011534978.1:p.Leu637= | |
| XM_011536677.1:c.1785G>A | XP_011534979.1:p.Leu595= | |
| XM_011536679.1:c.1338G>A | XP_011534981.1:p.Leu446= | |
| XR_943416.1:n.2308G>A | ||
| XM_011536675.2:c.2244G>A | XP_011534977.1:p.Leu748= | |
| XM_011536676.2:c.1911G>A | XP_011534978.1:p.Leu637= | |
| XM_011536677.3:c.1785G>A | XP_011534979.1:p.Leu595= | |
| XR_001750279.1:n.2341G>A | ||
| XR_001750282.1:n.2994G>A | ||
| XR_943416.3:n.2306G>A | ||
| NM_013382.6:c.2055G>A | NP_037514.2:p.Leu685= | |
| NM_013382.7:c.2055G>A MANE Select | NP_037514.2:p.Leu685= |