Linked Data
ClinVar Variation Id:
7665
ClinVar RCV Id:
RCV000008104
dbSNP Id:
rs121909175
gnomAD v3:
19-17877840-C-A
gnomAD v4:
19-17877840-C-A
PubMed:
PMID:9388506
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17877840C>A , CM000681.2:g.17877840C>A | GRCh38 |
| NC_000019.9:g.17988649C>A , CM000681.1:g.17988649C>A | GRCh37 |
| NC_000019.8:g.17849649C>A | NCBI36 |
| NG_012930.1:g.10868C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222248.4:c.816C>A MANE Select | ENSP00000222248.2:p.Cys272Ter | |
| ENST00000222248.3:c.816C>A | ENSP00000222248.2:p.Cys272Ter | |
| NM_000453.2:c.816C>A | NP_000444.1:p.Cys272Ter | |
| XM_011528192.1:c.816C>A | XP_011526494.1:p.Cys272Ter | |
| XM_011528193.1:c.549C>A | XP_011526495.1:p.Cys183Ter | |
| XM_011528194.1:c.450C>A | XP_011526496.1:p.Cys150Ter | |
| XM_011528192.2:c.816C>A | XP_011526494.1:p.Cys272Ter | |
| XM_011528193.3:c.549C>A | XP_011526495.1:p.Cys183Ter | |
| XM_011528194.3:c.450C>A | XP_011526496.1:p.Cys150Ter | |
| XM_017027158.1:c.549C>A | XP_016882647.1:p.Cys183Ter | |
| NM_000453.3:c.816C>A MANE Select | NP_000444.1:p.Cys272Ter |