Linked Data
ClinVar Variation Id:
334310
dbSNP Id:
rs147259983
ExAC:
2:219204534 G / A
gnomAD v2:
2-219204534-G-A
gnomAD v3:
2-218339811-G-A
gnomAD v4:
2-218339811-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218339811G>A , CM000664.2:g.218339811G>A | GRCh38 |
| NC_000002.11:g.219204534G>A , CM000664.1:g.219204534G>A | GRCh37 |
| NC_000002.10:g.218912778G>A | NCBI36 |
| NG_017060.1:g.74420G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436005.3:c.265G>A (PNKD) | ENSP00000414400.3:p.Gly89Arg | |
| ENST00000684905.1:n.276G>A (PNKD) | ||
| ENST00000685415.1:c.382G>A (PNKD) | ENSP00000510415.1:p.Gly128Arg | |
| ENST00000687736.1:c.265G>A (PNKD) | ENSP00000509627.1:p.Gly89Arg | |
| ENST00000688179.1:c.265G>A (PNKD) | ENSP00000508635.1:p.Gly89Arg | |
| ENST00000689098.1:n.182G>A (PNKD) | ||
| ENST00000689816.1:c.265G>A (PNKD) | ENSP00000508450.1:p.Gly89Arg | |
| ENST00000690891.1:c.410G>A (PNKD) | ENSP00000509744.1:n.410G>A | |
| ENST00000691220.1:c.237-2170G>A (PNKD) | ENSP00000509580.1:n.237-2170G>A | |
| ENST00000691799.1:n.240-4997G>A (PNKD) | ||
| ENST00000692295.1:c.165-1723G>A (PNKD) | ENSP00000509392.1:n.165-1723G>A | |
| ENST00000693423.1:c.165-4644G>A (PNKD) | ENSP00000508705.1:n.165-4644G>A | |
| ENST00000273077.9:c.265G>A (PNKD) MANE Select | ENSP00000273077.4:p.Gly89Arg | |
| ENST00000258362.7:c.193G>A (PNKD) | ENSP00000258362.3:p.Gly65Arg | |
| ENST00000273077.8:c.265G>A (PNKD) | ENSP00000273077.4:p.Gly89Arg | |
| ENST00000436005.2:c.85G>A (PNKD) | ENSP00000414400.2:p.Gly29Arg | |
| NM_015488.4:c.265G>A (PNKD) | NP_056303.3:p.Gly89Arg | |
| NM_022572.4:c.193G>A (PNKD) | NP_072094.1:p.Gly65Arg | |
| NR_125777.1:n.120+11349C>T (CATIP-AS2) | ||
| XM_017003771.1:c.265G>A (PNKD) | XP_016859260.1:p.Gly89Arg | |
| XM_017003772.1:c.193G>A (PNKD) | XP_016859261.1:p.Gly65Arg | |
| NM_015488.5:c.265G>A (PNKD) MANE Select | NP_056303.3:p.Gly89Arg |