Linked Data
ClinVar Variation Id:
285892
ClinVar RCV Id:
RCV000302399
dbSNP Id:
rs886043246
gnomAD v2:
7-99017715-G-A
gnomAD v4:
7-99420092-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99420092G>A , CM000669.2:g.99420092G>A | GRCh38 |
| NC_000007.13:g.99017715G>A , CM000669.1:g.99017715G>A | GRCh37 |
| NC_000007.12:g.98855651G>A | NCBI36 |
| NG_042827.1:g.23748C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292478.9:c.1978C>T (PTCD1) MANE Select | ENSP00000292478.5:p.Gln660Ter | |
| ENST00000292478.8:c.1978C>T (PTCD1) | ENSP00000292478.4:p.Gln660Ter | |
| ENST00000413834.5:c.2125C>T (ATP5MF-PTCD1) | ENSP00000400168.1:p.Gln709Ter | |
| NM_001198879.1:c.2125C>T (ATP5MF-PTCD1) | NP_001185808.1:p.Gln709Ter | |
| NM_015545.3:c.1978C>T (PTCD1) | NP_056360.2:p.Gln660Ter | |
| NM_001198879.2:c.2125C>T (ATP5MF-PTCD1) | NP_001185808.1:p.Gln709Ter | |
| NM_015545.4:c.1978C>T (PTCD1) MANE Select | NP_056360.2:p.Gln660Ter |