Linked Data
ClinVar Variation Id:
455016
ClinVar RCV Id:
RCV000556203
dbSNP Id:
rs1030308648
gnomAD v2:
3-180349320-C-A
gnomAD v3:
3-180631532-C-A
gnomAD v4:
3-180631532-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180631532C>A , CM000665.2:g.180631532C>A | GRCh38 |
| NC_000003.11:g.180349320C>A , CM000665.1:g.180349320C>A | GRCh37 |
| NC_000003.10:g.181832014C>A | NCBI36 |
| NG_029581.1:g.52964G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1935G>T MANE Select | ENSP00000417960.2:p.Leu645= | |
| ENST00000650641.1:n.1822G>T | ||
| ENST00000651046.1:c.1743G>T | ENSP00000499175.1:p.Leu581= | |
| ENST00000651922.1:n.1260G>T | ||
| ENST00000652408.1:n.2072G>T | ||
| ENST00000442201.6:c.1935G>T | ENSP00000405708.2:p.Leu645= | |
| ENST00000476379.5:c.1935G>T | ENSP00000417960.1:p.Leu645= | |
| NM_181426.1:c.1935G>T | NP_852091.1:p.Leu645= | |
| NM_181426.2:c.1935G>T MANE Select | NP_852091.1:p.Leu645= |