Linked Data
dbSNP Id:
rs757263982
ExAC:
16:2144068 G / A
gnomAD v2:
16-2144068-G-A
gnomAD v4:
16-2094067-G-A
COSMIC:
COSN5405371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2094067G>A , CM000678.2:g.2094067G>A | GRCh38 |
| NC_000016.9:g.2144068G>A , CM000678.1:g.2144068G>A | GRCh37 |
| NC_000016.8:g.2084069G>A | NCBI36 |
| NG_008617.1:g.49154C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.10618+25C>T (PKD1) MANE Select | ENSP00000262304.4:n.10618+25C>T | |
| ENST00000262304.8:c.10618+25C>T (PKD1) | ENSP00000262304.4:n.10618+25C>T | |
| ENST00000423118.5:c.10615+25C>T (PKD1) | ENSP00000399501.1:n.10615+25C>T | |
| ENST00000472659.1:n.55+25C>T (PKD1) | ||
| ENST00000487932.5:c.5180+25C>T (PKD1) | ENSP00000457132.1:n.5180+25C>T | |
| NM_000296.3:c.10615+25C>T (PKD1) | NP_000287.3:n.10615+25C>T | |
| NM_001009944.2:c.10618+25C>T (PKD1) | NP_001009944.2:n.10618+25C>T | |
| XM_005255370.2:c.7573+25C>T (PKD1) | XP_005255427.1:n.7573+25C>T | |
| XM_011522525.1:c.10696+25C>T (PKD1) | XP_011520827.1:n.10696+25C>T | |
| XM_011522526.1:c.10693+25C>T (PKD1) | XP_011520828.1:n.10693+25C>T | |
| XM_011522527.1:c.10678+25C>T (PKD1) | XP_011520829.1:n.10678+25C>T | |
| XM_011522528.1:c.10672+25C>T (PKD1) | XP_011520830.1:n.10672+25C>T | |
| XM_011522529.1:c.10669+25C>T (PKD1) | XP_011520831.1:n.10669+25C>T | |
| XM_011522530.1:c.10642+25C>T (PKD1) | XP_011520832.1:n.10642+25C>T | |
| XM_011522531.1:c.10624+25C>T (PKD1) | XP_011520833.1:n.10624+25C>T | |
| XM_011522532.1:c.10570+25C>T (PKD1) | XP_011520834.1:n.10570+25C>T | |
| XM_011522533.1:c.10489+25C>T (PKD1) | XP_011520835.1:n.10489+25C>T | |
| XM_011522534.1:c.10432+25C>T (PKD1) | XP_011520836.1:n.10432+25C>T | |
| XM_011522535.1:c.8518+25C>T (PKD1) | XP_011520837.1:n.8518+25C>T | |
| XM_011522537.1:c.7696+25C>T (PKD1) | XP_011520839.1:n.7696+25C>T | |
| XR_932867.1:n.10711+25C>T (PKD1) | ||
| XR_932868.1:n.10711+25C>T (PKD1) | ||
| XR_932869.1:n.10711+25C>T (PKD1) | ||
| XR_932870.1:n.10711+25C>T (PKD1) | ||
| XR_933000.1:n.214-611G>A (PKD1-AS1) | ||
| XR_933001.1:n.304-654G>A (PKD1-AS1) | ||
| XR_933002.1:n.213-611G>A (PKD1-AS1) | ||
| XR_933003.1:n.213-654G>A (PKD1-AS1) | ||
| NR_135175.1:n.304-654G>A (PKD1-AS1) | ||
| XM_005255370.3:c.7573+25C>T (PKD1) | XP_005255427.1:n.7573+25C>T | |
| XM_011522528.3:c.10672+25C>T (PKD1) | XP_011520830.1:n.10672+25C>T | |
| XM_011522529.2:c.10669+25C>T (PKD1) | XP_011520831.1:n.10669+25C>T | |
| XM_011522537.2:c.7696+25C>T (PKD1) | XP_011520839.1:n.7696+25C>T | |
| XM_024450298.1:c.10738+25C>T (PKD1) | XP_024306066.1:n.10738+25C>T | |
| XM_024450299.1:c.10666+25C>T (PKD1) | XP_024306067.1:n.10666+25C>T | |
| XM_024450300.1:c.10528+25C>T (PKD1) | XP_024306068.1:n.10528+25C>T | |
| XM_024450301.1:c.8614+25C>T (PKD1) | XP_024306069.1:n.8614+25C>T | |
| NM_000296.4:c.10615+25C>T (PKD1) | NP_000287.4:n.10615+25C>T | |
| NM_001009944.3:c.10618+25C>T (PKD1) MANE Select | NP_001009944.3:n.10618+25C>T |