Linked Data
dbSNP Id:
rs750949881
ExAC:
16:2142575 T / C
gnomAD v2:
16-2142575-T-C
gnomAD v4:
16-2092574-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092574T>C , CM000678.2:g.2092574T>C | GRCh38 |
| NC_000016.9:g.2142575T>C , CM000678.1:g.2142575T>C | GRCh37 |
| NC_000016.8:g.2082576T>C | NCBI36 |
| NG_008617.1:g.50647A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11175A>G (PKD1) MANE Select | ENSP00000262304.4:p.Pro3725= | |
| ENST00000262304.8:c.11175A>G (PKD1) | ENSP00000262304.4:p.Pro3725= | |
| ENST00000423118.5:c.11172A>G (PKD1) | ENSP00000399501.1:p.Pro3724= | |
| ENST00000485120.1:n.24A>G (PKD1) | ||
| ENST00000487932.5:c.5737A>G (PKD1) | ENSP00000457132.1:n.5737A>G | |
| ENST00000562425.1:c.288A>G (PKD1) | ||
| ENST00000567355.1:n.338A>G (PKD1) | ||
| NM_000296.3:c.11172A>G (PKD1) | NP_000287.3:p.Pro3724= | |
| NM_001009944.2:c.11175A>G (PKD1) | NP_001009944.2:p.Pro3725= | |
| XM_005255370.2:c.8130A>G (PKD1) | XP_005255427.1:p.Pro2710= | |
| XM_011522525.1:c.11253A>G (PKD1) | XP_011520827.1:p.Pro3751= | |
| XM_011522526.1:c.11250A>G (PKD1) | XP_011520828.1:p.Pro3750= | |
| XM_011522527.1:c.11235A>G (PKD1) | XP_011520829.1:p.Pro3745= | |
| XM_011522528.1:c.11229A>G (PKD1) | XP_011520830.1:p.Pro3743= | |
| XM_011522529.1:c.11226A>G (PKD1) | XP_011520831.1:p.Pro3742= | |
| XM_011522530.1:c.11199A>G (PKD1) | XP_011520832.1:p.Pro3733= | |
| XM_011522531.1:c.11181A>G (PKD1) | XP_011520833.1:p.Pro3727= | |
| XM_011522532.1:c.11127A>G (PKD1) | XP_011520834.1:p.Pro3709= | |
| XM_011522533.1:c.11046A>G (PKD1) | XP_011520835.1:p.Pro3682= | |
| XM_011522534.1:c.10989A>G (PKD1) | XP_011520836.1:p.Pro3663= | |
| XM_011522535.1:c.9075A>G (PKD1) | XP_011520837.1:p.Pro3025= | |
| XM_011522537.1:c.8253A>G (PKD1) | XP_011520839.1:p.Pro2751= | |
| XR_932867.1:n.11268A>G (PKD1) | ||
| XR_932868.1:n.11110-386A>G (PKD1) | ||
| XR_932869.1:n.11110-386A>G (PKD1) | ||
| XR_932870.1:n.11128A>G (PKD1) | ||
| XR_933000.1:n.90-315T>C (PKD1-AS1) | ||
| XR_933001.1:n.180-315T>C (PKD1-AS1) | ||
| XR_933002.1:n.89-315T>C (PKD1-AS1) | ||
| XR_933003.1:n.89-315T>C (PKD1-AS1) | ||
| NR_135175.1:n.180-315T>C (PKD1-AS1) | ||
| XM_005255370.3:c.8130A>G (PKD1) | XP_005255427.1:p.Pro2710= | |
| XM_011522528.3:c.11229A>G (PKD1) | XP_011520830.1:p.Pro3743= | |
| XM_011522529.2:c.11226A>G (PKD1) | XP_011520831.1:p.Pro3742= | |
| XM_011522537.2:c.8253A>G (PKD1) | XP_011520839.1:p.Pro2751= | |
| XM_024450298.1:c.11295A>G (PKD1) | XP_024306066.1:p.Pro3765= | |
| XM_024450299.1:c.11223A>G (PKD1) | XP_024306067.1:p.Pro3741= | |
| XM_024450300.1:c.11085A>G (PKD1) | XP_024306068.1:p.Pro3695= | |
| XM_024450301.1:c.9171A>G (PKD1) | XP_024306069.1:p.Pro3057= | |
| NM_000296.4:c.11172A>G (PKD1) | NP_000287.4:p.Pro3724= | |
| NM_001009944.3:c.11175A>G (PKD1) MANE Select | NP_001009944.3:p.Pro3725= |