Linked Data
ClinVar Variation Id:
2963632
ClinVar RCV Id:
RCV003825270
dbSNP Id:
rs375405196
gnomAD v2:
8-19811879-G-A
gnomAD v3:
8-19954368-G-A
gnomAD v4:
8-19954368-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954368G>A , CM000670.2:g.19954368G>A | GRCh38 |
| NC_000008.10:g.19811879G>A , CM000670.1:g.19811879G>A | GRCh37 |
| NC_000008.9:g.19856159G>A | NCBI36 |
| NG_008855.1:g.20298G>A | |
| NG_008855.2:g.57652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.775+15G>A MANE Select | ENSP00000497642.1:n.775+15G>A | |
| ENST00000311322.8:c.775+15G>A | ENSP00000309757.6:n.775+15G>A | |
| NM_000237.2:c.775+15G>A | NP_000228.1:n.775+15G>A | |
| NM_000237.3:c.775+15G>A MANE Select | NP_000228.1:n.775+15G>A |