Linked Data
ClinVar Variation Id:
1587816
ClinVar RCV Id:
RCV002103566
dbSNP Id:
rs1227935949
gnomAD v2:
1-193172994-G-A
gnomAD v4:
1-193203864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203864G>A , CM000663.2:g.193203864G>A | GRCh38 |
| NC_000001.10:g.193172994G>A , CM000663.1:g.193172994G>A | GRCh37 |
| NC_000001.9:g.191439617G>A | NCBI36 |
| NG_012691.1:g.86907G>A , LRG_507:g.86907G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1030+12G>A MANE Select | ENSP00000356405.4:n.1030+12G>A | |
| ENST00000635846.1:c.787+12G>A | ENSP00000490035.1:n.787+12G>A | |
| ENST00000643006.1:c.1098+12G>A | ENSP00000496633.1:n.1098+12G>A | |
| ENST00000648071.1:c.*1006+12G>A | ENSP00000497513.1:n.*1006+12G>A | |
| ENST00000649613.1:n.280+12G>A | ||
| ENST00000649895.1:n.1248+12G>A | ||
| ENST00000650197.1:c.1030+12G>A | ENSP00000496929.1:n.1030+12G>A | |
| ENST00000367435.3:c.1030+12G>A | ENSP00000356405.3:n.1030+12G>A | |
| NM_024529.4:c.1030+12G>A , LRG_507t1:c.1030+12G>A | NP_078805.3:n.1030+12G>A | |
| NM_024529.5:c.1030+12G>A MANE Select | NP_078805.3:n.1030+12G>A |