Linked Data
ClinVar Variation Id:
3131781
ClinVar RCV Id:
RCV004418640
dbSNP Id:
rs1399778210
gnomAD v4:
7-99429742-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99429742T>C , CM000669.2:g.99429742T>C | GRCh38 |
| NC_000007.13:g.99027365T>C , CM000669.1:g.99027365T>C | GRCh37 |
| NC_000007.12:g.98865301T>C | NCBI36 |
| NG_042827.1:g.14098A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292478.9:c.659A>G (PTCD1) MANE Select | ENSP00000292478.5:p.Glu220Gly | |
| ENST00000292478.8:c.659A>G (PTCD1) | ENSP00000292478.4:p.Glu220Gly | |
| ENST00000413834.5:c.806A>G (ATP5MF-PTCD1) | ENSP00000400168.1:p.Glu269Gly | |
| ENST00000485746.1:n.460A>G (PTCD1) | ||
| NM_001198879.1:c.806A>G (ATP5MF-PTCD1) | NP_001185808.1:p.Glu269Gly | |
| NM_015545.3:c.659A>G (PTCD1) | NP_056360.2:p.Glu220Gly | |
| NM_001198879.2:c.806A>G (ATP5MF-PTCD1) | NP_001185808.1:p.Glu269Gly | |
| NM_015545.4:c.659A>G (PTCD1) MANE Select | NP_056360.2:p.Glu220Gly |