Linked Data
ClinVar Variation Id:
454906
ClinVar RCV Id:
RCV000532009
dbSNP Id:
rs749029870
ExAC:
14:50092334 C / A
gnomAD v2:
14-50092334-C-A
gnomAD v3:
14-49625616-C-A
gnomAD v4:
14-49625616-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49625616C>A , CM000676.2:g.49625616C>A | GRCh38 |
| NC_000014.8:g.50092334C>A , CM000676.1:g.50092334C>A | GRCh37 |
| NC_000014.7:g.49162084C>A | NCBI36 |
| NG_013070.1:g.14615G>T | |
| NG_033054.1:g.16G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298292.13:c.2440G>T MANE Select | ENSP00000298292.8:p.Val814Leu | |
| ENST00000298292.12:c.2440G>T | ENSP00000298292.8:p.Val814Leu | |
| ENST00000406043.3:c.2296G>T | ENSP00000384862.3:p.Val766Leu | |
| NM_001083908.1:c.2296G>T | NP_001077377.1:p.Val766Leu | |
| NM_018139.2:c.2440G>T | NP_060609.2:p.Val814Leu | |
| NM_001083908.2:c.2296G>T | NP_001077377.1:p.Val766Leu | |
| NM_001378453.1:c.229G>T | NP_001365382.1:p.Val77Leu | |
| NM_018139.3:c.2440G>T MANE Select | NP_060609.2:p.Val814Leu |