Linked Data
dbSNP Id:
rs1209415208
gnomAD v2:
16-2156686-C-G
gnomAD v3:
16-2106685-C-G
gnomAD v4:
16-2106685-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106685C>G , CM000678.2:g.2106685C>G | GRCh38 |
| NC_000016.9:g.2156686C>G , CM000678.1:g.2156686C>G | GRCh37 |
| NC_000016.8:g.2096687C>G | NCBI36 |
| NG_008617.1:g.34214G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7210-8G>C (PKD1) MANE Select | ENSP00000262304.4:n.7210-8G>C | |
| ENST00000262304.8:c.7210-8G>C (PKD1) | ENSP00000262304.4:n.7210-8G>C | |
| ENST00000415938.7:n.455-8G>C (PKD1) | ||
| ENST00000423118.5:c.7210-8G>C (PKD1) | ENSP00000399501.1:n.7210-8G>C | |
| ENST00000483024.1:c.378-8G>C (PKD1) | ||
| ENST00000483558.5:n.269-8G>C (PKD1) | ||
| ENST00000483731.5:n.935-8G>C (PKD1) | ||
| ENST00000486339.6:n.956-8G>C (PKD1) | ||
| ENST00000487932.5:c.1897-8G>C (PKD1) | ENSP00000457132.1:n.1897-8G>C | |
| ENST00000496574.6:n.1213-8G>C (PKD1) | ||
| ENST00000565639.6:n.918-8G>C (PKD1) | ||
| ENST00000568591.5:c.2371-8G>C (PKD1) | ENSP00000457162.1:n.2371-8G>C | |
| ENST00000569983.5:n.566-8G>C (PKD1) | ||
| NM_000296.3:c.7210-8G>C (PKD1) | NP_000287.3:n.7210-8G>C | |
| NM_001009944.2:c.7210-8G>C (PKD1) | NP_001009944.2:n.7210-8G>C | |
| NR_106775.1:n.69G>C (MIR6511B1) | ||
| XM_005255370.2:c.4165-8G>C (PKD1) | XP_005255427.1:n.4165-8G>C | |
| XM_011522525.1:c.7288-8G>C (PKD1) | XP_011520827.1:n.7288-8G>C | |
| XM_011522526.1:c.7288-8G>C (PKD1) | XP_011520828.1:n.7288-8G>C | |
| XM_011522527.1:c.7288-8G>C (PKD1) | XP_011520829.1:n.7288-8G>C | |
| XM_011522528.1:c.7264-8G>C (PKD1) | XP_011520830.1:n.7264-8G>C | |
| XM_011522529.1:c.7264-8G>C (PKD1) | XP_011520831.1:n.7264-8G>C | |
| XM_011522530.1:c.7234-8G>C (PKD1) | XP_011520832.1:n.7234-8G>C | |
| XM_011522531.1:c.7216-8G>C (PKD1) | XP_011520833.1:n.7216-8G>C | |
| XM_011522532.1:c.7162-8G>C (PKD1) | XP_011520834.1:n.7162-8G>C | |
| XM_011522533.1:c.7081-8G>C (PKD1) | XP_011520835.1:n.7081-8G>C | |
| XM_011522534.1:c.7024-8G>C (PKD1) | XP_011520836.1:n.7024-8G>C | |
| XM_011522535.1:c.5110-8G>C (PKD1) | XP_011520837.1:n.5110-8G>C | |
| XM_011522536.1:c.7288-8G>C (PKD1) | XP_011520838.1:n.7288-8G>C | |
| XM_011522537.1:c.4288-8G>C (PKD1) | XP_011520839.1:n.4288-8G>C | |
| XR_932867.1:n.7303-8G>C (PKD1) | ||
| XR_932868.1:n.7303-8G>C (PKD1) | ||
| XR_932869.1:n.7303-8G>C (PKD1) | ||
| XR_932870.1:n.7303-8G>C (PKD1) | ||
| XM_005255370.3:c.4165-8G>C (PKD1) | XP_005255427.1:n.4165-8G>C | |
| XM_011522528.3:c.7264-8G>C (PKD1) | XP_011520830.1:n.7264-8G>C | |
| XM_011522529.2:c.7264-8G>C (PKD1) | XP_011520831.1:n.7264-8G>C | |
| XM_011522537.2:c.4288-8G>C (PKD1) | XP_011520839.1:n.4288-8G>C | |
| XM_024450298.1:c.7330-8G>C (PKD1) | XP_024306066.1:n.7330-8G>C | |
| XM_024450299.1:c.7258-8G>C (PKD1) | XP_024306067.1:n.7258-8G>C | |
| XM_024450300.1:c.7120-8G>C (PKD1) | XP_024306068.1:n.7120-8G>C | |
| XM_024450301.1:c.5206-8G>C (PKD1) | XP_024306069.1:n.5206-8G>C | |
| NM_000296.4:c.7210-8G>C (PKD1) | NP_000287.4:n.7210-8G>C | |
| NM_001009944.3:c.7210-8G>C (PKD1) MANE Select | NP_001009944.3:n.7210-8G>C |