Linked Data
ClinVar Variation Id:
386730
dbSNP Id:
rs199643016
ExAC:
20:62120353 C / A
gnomAD v2:
20-62120353-C-A
gnomAD v3:
20-63489000-C-A
gnomAD v4:
20-63489000-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63489000C>A , CM000682.2:g.63489000C>A | GRCh38 |
| NC_000020.10:g.62120353C>A , CM000682.1:g.62120353C>A | GRCh37 |
| NC_000020.9:g.61590797C>A | NCBI36 |
| NG_034083.1:g.15316G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706948.1:c.1182G>T | ENSP00000516668.1:p.Leu394= | |
| ENST00000706949.1:c.1182G>T | ENSP00000516669.1:p.Leu394= | |
| ENST00000217182.6:c.1182G>T MANE Select | ENSP00000217182.3:p.Leu394= | |
| ENST00000298049.12:c.1182G>T | ENSP00000298049.8:p.Leu394= | |
| ENST00000675519.1:c.*1054G>T | ENSP00000501859.1:n.*1054G>T | |
| ENST00000217182.4:c.1182G>T | ENSP00000217182.3:p.Leu394= | |
| ENST00000298049.11:c.1182G>T | ENSP00000298049.7:p.Leu394= | |
| NM_001958.3:c.1182G>T | NP_001949.1:p.Leu394= | |
| NM_001958.4:c.1182G>T | NP_001949.1:p.Leu394= | |
| NM_001958.5:c.1182G>T MANE Select | NP_001949.1:p.Leu394= |