Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99423818C>T , CM000669.2:g.99423818C>T | GRCh38 |
| NC_000007.13:g.99021441C>T , CM000669.1:g.99021441C>T | GRCh37 |
| NC_000007.12:g.98859377C>T | NCBI36 |
| NG_042827.1:g.20022G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015545.4:c.1877G>A (PTCD1) MANE Select | NP_056360.2:p.Arg626His |
| ENST00000292478.9:c.1877G>A (PTCD1) MANE Select | ENSP00000292478.5:p.Arg626His |
| NM_001198879.1:c.2024G>A (ATP5MF-PTCD1) | NP_001185808.1:p.Arg675His |
| NM_001198879.2:c.2024G>A (ATP5MF-PTCD1) | NP_001185808.1:p.Arg675His |
| NM_015545.3:c.1877G>A (PTCD1) | NP_056360.2:p.Arg626His |
| ENST00000292478.8:c.1877G>A (PTCD1) | ENSP00000292478.4:p.Arg626His |
| ENST00000413834.5:c.2024G>A (ATP5MF-PTCD1) | ENSP00000400168.1:p.Arg675His |