Linked Data
ClinVar Variation Id:
509919
dbSNP Id:
rs760608239
ExAC:
14:77745172 C / T
gnomAD v2:
14-77745172-C-T
gnomAD v3:
14-77278829-C-T
gnomAD v4:
14-77278829-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278829C>T , CM000676.2:g.77278829C>T | GRCh38 |
| NC_000014.8:g.77745172C>T , CM000676.1:g.77745172C>T | GRCh37 |
| NC_000014.7:g.76814925C>T | NCBI36 |
| NG_008897.1:g.47054G>A , LRG_844:g.47054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.857G>A | ||
| ENST00000556394.2:c.1473G>A | ENSP00000451967.2:p.Leu491= | |
| ENST00000682128.1:c.233G>A | ENSP00000506976.1:n.233G>A | |
| ENST00000682247.1:c.1921G>A | ENSP00000507213.1:p.Ala641Thr | |
| ENST00000682395.1:n.2396G>A | ||
| ENST00000682459.1:n.1635G>A | ||
| ENST00000682467.1:c.1892-321G>A | ENSP00000508062.1:n.1892-321G>A | |
| ENST00000682615.1:n.286G>A | ||
| ENST00000682795.1:c.2079G>A | ENSP00000507574.1:p.Leu693= | |
| ENST00000682895.1:n.1648G>A | ||
| ENST00000682955.1:n.1506G>A | ||
| ENST00000683095.1:c.338G>A | ENSP00000508040.1:n.338G>A | |
| ENST00000683188.1:c.2193G>A | ||
| ENST00000683380.1:n.1596G>A | ||
| ENST00000683828.1:c.1641G>A | ||
| ENST00000683907.1:c.197G>A | ENSP00000507754.1:p.Cys66Tyr | |
| ENST00000684172.1:c.308G>A | ENSP00000508391.1:n.308G>A | |
| ENST00000684259.1:n.3699G>A | ||
| ENST00000684538.1:n.1311G>A | ||
| ENST00000684549.1:n.1483G>A | ||
| ENST00000261534.9:c.1932G>A MANE Select | ENSP00000261534.4:p.Leu644= | |
| ENST00000261534.8:c.1932G>A | ENSP00000261534.4:p.Leu644= | |
| ENST00000452340.7:n.2908G>A | ||
| ENST00000554767.5:n.2718G>A | ||
| ENST00000555134.1:n.857G>A | ||
| ENST00000555710.1:c.293G>A | ENSP00000451730.1:n.293G>A | |
| ENST00000556171.1:c.524G>A | ||
| ENST00000556394.1:c.88-321G>A | ||
| ENST00000556446.1:n.233G>A | ||
| ENST00000602717.5:c.147G>A | ENSP00000487704.1:p.Leu49= | |
| NM_013382.5:c.1932G>A , LRG_844t1:c.1932G>A | NP_037514.2:p.Leu644= | |
| XM_011536675.1:c.2121G>A | XP_011534977.1:p.Leu707= | |
| XM_011536676.1:c.1788G>A | XP_011534978.1:p.Leu596= | |
| XM_011536677.1:c.1662G>A | XP_011534979.1:p.Leu554= | |
| XM_011536679.1:c.1215G>A | XP_011534981.1:p.Leu405= | |
| XR_943416.1:n.2185G>A | ||
| XM_011536675.2:c.2121G>A | XP_011534977.1:p.Leu707= | |
| XM_011536676.2:c.1788G>A | XP_011534978.1:p.Leu596= | |
| XM_011536677.3:c.1662G>A | XP_011534979.1:p.Leu554= | |
| XR_001750279.1:n.2218G>A | ||
| XR_001750282.1:n.2871G>A | ||
| XR_943416.3:n.2183G>A | ||
| NM_013382.6:c.1932G>A | NP_037514.2:p.Leu644= | |
| NM_013382.7:c.1932G>A MANE Select | NP_037514.2:p.Leu644= |