Linked Data
ClinVar Variation Id:
1084446
ClinVar RCV Id:
RCV001401468
dbSNP Id:
rs766013008
ExAC:
3:49162569 C / A
gnomAD v2:
3-49162569-C-A
gnomAD v3:
3-49125136-C-A
gnomAD v4:
3-49125136-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125136C>A , CM000665.2:g.49125136C>A | GRCh38 |
| NC_000003.11:g.49162569C>A , CM000665.1:g.49162569C>A | GRCh37 |
| NC_000003.10:g.49137573C>A | NCBI36 |
| NG_008094.1:g.13031G>T | |
| NG_054716.1:g.803G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2754G>T MANE Select | ENSP00000307156.4:p.Leu918= | |
| ENST00000305544.8:c.2754G>T | ENSP00000307156.4:p.Leu918= | |
| ENST00000418109.5:c.2754G>T | ENSP00000388325.1:p.Leu918= | |
| ENST00000462930.5:n.161G>T | ||
| ENST00000464891.5:n.487G>T | ||
| ENST00000483057.1:n.354G>T | ||
| ENST00000486298.5:n.459G>T | ||
| ENST00000542580.1:n.69G>T | ||
| NM_002292.3:c.2754G>T | NP_002283.3:p.Leu918= | |
| XM_005265127.3:c.2754G>T | XP_005265184.1:p.Leu918= | |
| XM_005265127.4:c.2754G>T | XP_005265184.1:p.Leu918= | |
| NM_002292.4:c.2754G>T MANE Select | NP_002283.3:p.Leu918= |