Linked Data
ClinVar Variation Id:
328550
ClinVar RCV Id:
RCV000268881
dbSNP Id:
rs183947586
gnomAD v2:
19-18004924-C-A
gnomAD v3:
19-17894115-C-A
gnomAD v4:
19-17894115-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17894115C>A , CM000681.2:g.17894115C>A | GRCh38 |
| NC_000019.9:g.18004924C>A , CM000681.1:g.18004924C>A | GRCh37 |
| NC_000019.8:g.17865924C>A | NCBI36 |
| NG_012930.1:g.27143C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.*238C>A MANE Select | ENSP00000222248.2:n.*238C>A | |
| ENST00000222248.3:c.*238C>A | ENSP00000222248.2:n.*238C>A | |
| NM_000453.2:c.*238C>A | NP_000444.1:n.*238C>A | |
| XM_011528192.1:c.*238C>A | XP_011526494.1:n.*238C>A | |
| XM_011528193.1:c.*238C>A | XP_011526495.1:n.*238C>A | |
| XM_011528194.1:c.*238C>A | XP_011526496.1:n.*238C>A | |
| XM_011528192.2:c.*238C>A | XP_011526494.1:n.*238C>A | |
| XM_011528193.3:c.*238C>A | XP_011526495.1:n.*238C>A | |
| XM_011528194.3:c.*238C>A | XP_011526496.1:n.*238C>A | |
| XM_017027158.1:c.*238C>A | XP_016882647.1:n.*238C>A | |
| NM_000453.3:c.*238C>A MANE Select | NP_000444.1:n.*238C>A |