Linked Data
ClinVar Variation Id:
1553552
ClinVar RCV Id:
RCV002180560
dbSNP Id:
rs2123786879
gnomAD v4:
22-17085245-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085245G>A , CM000684.2:g.17085245G>A | GRCh38 |
| NC_000022.10:g.17566135G>A , CM000684.1:g.17566135G>A | GRCh37 |
| NC_000022.9:g.15946135G>A | NCBI36 |
| NG_028257.1:g.5285G>A , LRG_355:g.5285G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.138+16G>A | ENSP00000479970.1:n.138+16G>A | |
| ENST00000694948.1:n.236+16G>A | ||
| ENST00000694949.1:n.233+16G>A | ||
| ENST00000694950.1:c.218+16G>A | ||
| ENST00000319363.11:c.138+16G>A MANE Select | ENSP00000320936.6:n.138+16G>A | |
| ENST00000319363.10:c.138+16G>A | ENSP00000320936.6:n.138+16G>A | |
| ENST00000459971.1:n.173+16G>A | ||
| ENST00000477874.1:n.276+16G>A | ||
| ENST00000612619.1:c.138+16G>A | ENSP00000479970.1:n.138+16G>A | |
| NM_001289905.1:c.138+16G>A | NP_001276834.1:n.138+16G>A | |
| NM_014339.6:c.138+16G>A , LRG_355t1:c.138+16G>A | NP_055154.3:n.138+16G>A | |
| NM_014339.7:c.138+16G>A MANE Select | NP_055154.3:n.138+16G>A | |
| NM_001289905.2:c.138+16G>A | NP_001276834.1:n.138+16G>A |