Linked Data
ClinVar Variation Id:
1991337
ClinVar RCV Id:
RCV002771585
dbSNP Id:
rs1280493182
gnomAD v4:
19-12665448-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665448G>A , CM000681.2:g.12665448G>A | GRCh38 |
| NC_000019.9:g.12776262G>A , CM000681.1:g.12776262G>A | GRCh37 |
| NC_000019.8:g.12637262G>A | NCBI36 |
| NG_008318.1:g.6330C>T | |
| NG_015814.1:g.3645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.340C>T MANE Select | ENSP00000395473.2:p.Arg114Cys | |
| ENST00000221363.8:c.340C>T | ENSP00000221363.4:p.Arg114Cys | |
| ENST00000456935.6:c.340C>T | ENSP00000395473.2:p.Arg114Cys | |
| ENST00000466794.5:n.322C>T | ||
| ENST00000486847.2:c.237C>T | ENSP00000470174.1:p.Pro79= | |
| ENST00000596512.5:n.278C>T | ||
| ENST00000597961.1:c.331C>T | ENSP00000472710.1:p.Arg111Cys | |
| ENST00000598876.1:c.367C>T | ENSP00000470533.1:p.Arg123Cys | |
| ENST00000600281.1:n.381C>T | ||
| NM_000528.3:c.340C>T | NP_000519.2:p.Arg114Cys | |
| NM_001173498.1:c.340C>T | NP_001166969.1:p.Arg114Cys | |
| XM_005259913.1:c.340C>T | XP_005259970.1:p.Arg114Cys | |
| XM_005259913.2:c.340C>T | XP_005259970.1:p.Arg114Cys | |
| XM_024451518.1:c.-679C>T | XP_024307286.1:n.-679C>T | |
| NM_000528.4:c.340C>T MANE Select | NP_000519.2:p.Arg114Cys | |
| NM_001173498.2:c.340C>T | NP_001166969.1:p.Arg114Cys |