Linked Data
ClinVar Variation Id:
1042649
dbSNP Id:
rs763052723
ExAC:
2:219204807 C / G
gnomAD v2:
2-219204807-C-G
gnomAD v4:
2-218340084-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218340084C>G , CM000664.2:g.218340084C>G | GRCh38 |
| NC_000002.11:g.219204807C>G , CM000664.1:g.219204807C>G | GRCh37 |
| NC_000002.10:g.218913051C>G | NCBI36 |
| NG_017060.1:g.74693C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436005.3:c.408C>G (PNKD) | ENSP00000414400.3:p.Ile136Met | |
| ENST00000684905.1:n.419C>G (PNKD) | ||
| ENST00000685415.1:c.525C>G (PNKD) | ENSP00000510415.1:p.Ile175Met | |
| ENST00000687736.1:c.408C>G (PNKD) | ENSP00000509627.1:p.Ile136Met | |
| ENST00000688179.1:c.408C>G (PNKD) | ENSP00000508635.1:p.Ile136Met | |
| ENST00000689098.1:n.325C>G (PNKD) | ||
| ENST00000689816.1:c.408C>G (PNKD) | ENSP00000508450.1:p.Ile136Met | |
| ENST00000690891.1:c.553C>G (PNKD) | ENSP00000509744.1:n.553C>G | |
| ENST00000691220.1:c.237-1897C>G (PNKD) | ENSP00000509580.1:n.237-1897C>G | |
| ENST00000691799.1:n.240-4724C>G (PNKD) | ||
| ENST00000692295.1:c.165-1450C>G (PNKD) | ENSP00000509392.1:n.165-1450C>G | |
| ENST00000693423.1:c.165-4371C>G (PNKD) | ENSP00000508705.1:n.165-4371C>G | |
| ENST00000273077.9:c.408C>G (PNKD) MANE Select | ENSP00000273077.4:p.Ile136Met | |
| ENST00000258362.7:c.336C>G (PNKD) | ENSP00000258362.3:p.Ile112Met | |
| ENST00000273077.8:c.408C>G (PNKD) | ENSP00000273077.4:p.Ile136Met | |
| ENST00000436005.2:c.228C>G (PNKD) | ENSP00000414400.2:p.Ile76Met | |
| NM_015488.4:c.408C>G (PNKD) | NP_056303.3:p.Ile136Met | |
| NM_022572.4:c.336C>G (PNKD) | NP_072094.1:p.Ile112Met | |
| NR_125777.1:n.120+11076G>C (CATIP-AS2) | ||
| XM_017003771.1:c.408C>G (PNKD) | XP_016859260.1:p.Ile136Met | |
| XM_017003772.1:c.336C>G (PNKD) | XP_016859261.1:p.Ile112Met | |
| NM_015488.5:c.408C>G (PNKD) MANE Select | NP_056303.3:p.Ile136Met |