Linked Data
ClinVar Variation Id:
901845
ClinVar RCV Id:
RCV001147971
dbSNP Id:
rs538225254
gnomAD v2:
22-21242366-G-A
gnomAD v3:
22-20888078-G-A
gnomAD v4:
22-20888078-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888078G>A , CM000684.2:g.20888078G>A | GRCh38 |
| NC_000022.10:g.21242366G>A , CM000684.1:g.21242366G>A | GRCh37 |
| NC_000022.9:g.19572366G>A | NCBI36 |
| NG_012152.1:g.34075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*242G>A MANE Select | ENSP00000215730.6:n.*242G>A | |
| ENST00000215730.11:c.*242G>A | ENSP00000215730.6:n.*242G>A | |
| NM_004782.3:c.*242G>A | NP_004773.1:n.*242G>A | |
| NM_004782.4:c.*242G>A MANE Select | NP_004773.1:n.*242G>A |