Linked Data
ClinVar Variation Id:
356022
dbSNP Id:
rs200065081
ExAC:
6:163148730 A / G
gnomAD v2:
6-163148730-A-G
gnomAD v3:
6-162727698-A-G
gnomAD v4:
6-162727698-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.162727698A>G , CM000668.2:g.162727698A>G | GRCh38 |
| NC_000006.11:g.163148730A>G , CM000668.1:g.163148730A>G | GRCh37 |
| NC_000006.10:g.163068720A>G | NCBI36 |
| NG_008289.1:g.5105T>C | |
| NG_011525.1:g.5567A>G | |
| NG_008289.2:g.5105T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366898.6:c.-30T>C (PRKN) MANE Select | ENSP00000355865.1:n.-30T>C | |
| ENST00000674250.1:c.-30T>C (PRKN) | ENSP00000501354.1:n.-30T>C | |
| ENST00000674501.1:n.78T>C (PRKN) | ||
| ENST00000337019.7:c.-77+419A>G (PACRG) | ENSP00000337946.3:n.-77+419A>G | |
| ENST00000366889.6:c.-77+419A>G (PACRG) | ENSP00000355855.2:n.-77+419A>G | |
| ENST00000366892.5:c.-30T>C (PRKN) | ENSP00000355858.1:n.-30T>C | |
| ENST00000366896.5:c.-30T>C (PRKN) | ENSP00000355862.1:n.-30T>C | |
| ENST00000366897.5:c.-30T>C (PRKN) | ENSP00000355863.1:n.-30T>C | |
| ENST00000366898.5:c.-30T>C (PRKN) | ENSP00000355865.1:n.-30T>C | |
| NM_001080378.1:c.-77+419A>G (PACRG) | NP_001073847.1:n.-77+419A>G | |
| NM_004562.2:c.-30T>C (PRKN) | NP_004553.2:n.-30T>C | |
| NM_013987.2:c.-30T>C (PRKN) | NP_054642.2:n.-30T>C | |
| NM_013988.2:c.-30T>C (PRKN) | NP_054643.2:n.-30T>C | |
| NM_152410.2:c.-77+419A>G (PACRG) | NP_689623.2:n.-77+419A>G | |
| XM_011535456.1:c.-77+419A>G (PACRG) | XP_011533758.1:n.-77+419A>G | |
| XM_011535458.1:c.-77+406A>G (PACRG) | XP_011533760.1:n.-77+406A>G | |
| XM_011535459.1:c.-77+21A>G (PACRG) | XP_011533761.1:n.-77+21A>G | |
| XM_011535460.1:c.-77+49A>G (PACRG) | XP_011533762.1:n.-77+49A>G | |
| XM_011535863.1:c.-30T>C (PRKN) | XP_011534165.1:n.-30T>C | |
| XM_011535864.1:c.-30T>C (PRKN) | XP_011534166.1:n.-30T>C | |
| XM_011535865.1:c.-30T>C (PRKN) | XP_011534167.1:n.-30T>C | |
| XM_011535866.1:c.-30T>C (PRKN) | XP_011534168.1:n.-30T>C | |
| XM_011535867.1:c.-30T>C (PRKN) | XP_011534169.1:n.-30T>C | |
| XM_017010275.2:c.-77+419A>G (PACRG) | XP_016865764.1:n.-77+419A>G | |
| XM_017010277.2:c.-77+406A>G (PACRG) | XP_016865766.1:n.-77+406A>G | |
| XM_017010278.2:c.-77+21A>G (PACRG) | XP_016865767.1:n.-77+21A>G | |
| XM_017010279.2:c.-77+49A>G (PACRG) | XP_016865768.1:n.-77+49A>G | |
| XM_017010909.2:c.-103T>C (PRKN) | XP_016866398.1:n.-103T>C | |
| XM_024446449.1:c.-103T>C (PRKN) | XP_024302217.1:n.-103T>C | |
| XR_001743443.2:n.77T>C (PRKN) | ||
| NM_004562.3:c.-30T>C (PRKN) MANE Select | NP_004553.2:n.-30T>C | |
| NM_013987.3:c.-30T>C (PRKN) | NP_054642.2:n.-30T>C | |
| NM_013988.3:c.-30T>C (PRKN) | NP_054643.2:n.-30T>C | |
| NM_001080378.2:c.-77+419A>G (PACRG) | NP_001073847.1:n.-77+419A>G | |
| NM_152410.3:c.-77+419A>G (PACRG) | NP_689623.2:n.-77+419A>G |