gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6282526 (AFR)
Genomes Max Group AF
0.62826492 (AFR)
Exomes Max Group AF
0.49675437 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218286495A>C , CM000664.2:g.218286495A>C | GRCh38 |
| NC_000002.11:g.219151218A>C , CM000664.1:g.219151218A>C | GRCh37 |
| NC_000002.10:g.218859462A>C | NCBI36 |
| NG_017060.1:g.21104A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436005.3:c.236+14946A>C (PNKD) | ENSP00000414400.3:n.236+14946A>C | |
| ENST00000472650.2:n.261+14946A>C (PNKD) | ||
| ENST00000684905.1:n.247+14946A>C (PNKD) | ||
| ENST00000685415.1:c.353+13809A>C (PNKD) | ENSP00000510415.1:n.353+13809A>C | |
| ENST00000687736.1:c.236+14946A>C (PNKD) | ENSP00000509627.1:n.236+14946A>C | |
| ENST00000688179.1:c.236+14946A>C (PNKD) | ENSP00000508635.1:n.236+14946A>C | |
| ENST00000689816.1:c.236+14946A>C (PNKD) | ENSP00000508450.1:n.236+14946A>C | |
| ENST00000690891.1:c.236+14946A>C (PNKD) | ENSP00000509744.1:n.236+14946A>C | |
| ENST00000691220.1:c.236+14946A>C (PNKD) | ENSP00000509580.1:n.236+14946A>C | |
| ENST00000691799.1:n.239+14946A>C (PNKD) | ||
| ENST00000258412.8:c.-40-4314T>G (TMBIM1) MANE Select | ENSP00000258412.3:n.-40-4314T>G | |
| ENST00000273077.9:c.236+14946A>C (PNKD) MANE Select | ENSP00000273077.4:n.236+14946A>C | |
| ENST00000258412.7:c.-40-4314T>G (TMBIM1) | ENSP00000258412.3:n.-40-4314T>G | |
| ENST00000273077.8:c.236+14946A>C (PNKD) | ENSP00000273077.4:n.236+14946A>C | |
| ENST00000413976.1:c.-162-2335T>G (TMBIM1) | ENSP00000408729.1:n.-162-2335T>G | |
| ENST00000418569.5:c.-41+712T>G (TMBIM1) | ENSP00000406744.1:n.-41+712T>G | |
| ENST00000420341.1:c.-268-2229T>G (TMBIM1) | ENSP00000413624.1:n.-268-2229T>G | |
| ENST00000429501.5:c.-41+3471T>G (TMBIM1) | ENSP00000399987.1:n.-41+3471T>G | |
| ENST00000434015.2:c.-314-557T>G (TMBIM1) | ENSP00000405516.2:n.-314-557T>G | |
| ENST00000437694.6:c.-40-4314T>G (TMBIM1) | ENSP00000404709.2:n.-40-4314T>G | |
| ENST00000440422.5:c.-216-557T>G (TMBIM1) | ENSP00000412518.1:n.-216-557T>G | |
| ENST00000444000.5:c.-216-557T>G (TMBIM1) | ENSP00000403462.1:n.-216-557T>G | |
| ENST00000444183.5:c.-138-2359T>G (TMBIM1) | ENSP00000410136.1:n.-138-2359T>G | |
| ENST00000444881.5:c.-372T>G (TMBIM1) | ENSP00000409738.1:n.-372T>G | |
| ENST00000445635.5:c.-321+5971T>G (TMBIM1) | ENSP00000401491.1:n.-321+5971T>G | |
| ENST00000451181.5:c.-216-557T>G (TMBIM1) | ENSP00000394946.1:n.-216-557T>G | |
| ENST00000453281.5:c.-212-561T>G (TMBIM1) | ENSP00000395614.1:n.-212-561T>G | |
| ENST00000466012.5:n.70+5971T>G (TMBIM1) | ||
| ENST00000472650.1:n.170+14946A>C (PNKD) | ||
| ENST00000495113.5:n.48-4314T>G (TMBIM1) | ||
| NM_015488.4:c.236+14946A>C (PNKD) | NP_056303.3:n.236+14946A>C | |
| NM_022152.4:c.-40-4314T>G (TMBIM1) | NP_071435.2:n.-40-4314T>G | |
| XM_005246758.2:c.-216-557T>G (TMBIM1) | XP_005246815.1:n.-216-557T>G | |
| XM_005246762.2:c.-41+712T>G (TMBIM1) | XP_005246819.1:n.-41+712T>G | |
| XM_011511625.1:c.-216-557T>G (TMBIM1) | XP_011509927.1:n.-216-557T>G | |
| XM_011511626.1:c.-372T>G (TMBIM1) | XP_011509928.1:n.-372T>G | |
| NM_001321427.1:c.-372T>G (TMBIM1) | NP_001308356.1:n.-372T>G | |
| NM_001321428.1:c.-41+712T>G (TMBIM1) | NP_001308357.1:n.-41+712T>G | |
| NM_001321429.1:c.-216-557T>G (TMBIM1) | NP_001308358.1:n.-216-557T>G | |
| NM_001321430.1:c.-216-557T>G (TMBIM1) | NP_001308359.1:n.-216-557T>G | |
| NM_001321432.1:c.-41+3471T>G (TMBIM1) | NP_001308361.1:n.-41+3471T>G | |
| NM_001321433.1:c.-138-2359T>G (TMBIM1) | NP_001308362.1:n.-138-2359T>G | |
| NM_001321435.1:c.-216-557T>G (TMBIM1) | NP_001308364.1:n.-216-557T>G | |
| NM_001321436.1:c.-216-557T>G (TMBIM1) | NP_001308365.1:n.-216-557T>G | |
| NM_001321438.1:c.-308-4314T>G (TMBIM1) | NP_001308367.1:n.-308-4314T>G | |
| NM_022152.5:c.-40-4314T>G (TMBIM1) | NP_071435.2:n.-40-4314T>G | |
| NR_135643.1:n.112+5971T>G (TMBIM1) | ||
| XM_017003771.1:c.236+14946A>C (PNKD) | XP_016859260.1:n.236+14946A>C | |
| NM_015488.5:c.236+14946A>C (PNKD) MANE Select | NP_056303.3:n.236+14946A>C | |
| NM_022152.6:c.-40-4314T>G (TMBIM1) MANE Select | NP_071435.2:n.-40-4314T>G | |
| NM_001321427.2:c.-372T>G (TMBIM1) | NP_001308356.1:n.-372T>G | |
| NM_001321428.2:c.-41+712T>G (TMBIM1) | NP_001308357.1:n.-41+712T>G | |
| NM_001321429.2:c.-216-557T>G (TMBIM1) | NP_001308358.1:n.-216-557T>G | |
| NM_001321430.2:c.-216-557T>G (TMBIM1) | NP_001308359.1:n.-216-557T>G | |
| NM_001321432.2:c.-41+3471T>G (TMBIM1) | NP_001308361.1:n.-41+3471T>G | |
| NM_001321433.2:c.-138-2359T>G (TMBIM1) | NP_001308362.1:n.-138-2359T>G | |
| NM_001321435.2:c.-216-557T>G (TMBIM1) | NP_001308364.1:n.-216-557T>G | |
| NM_001321436.2:c.-216-557T>G (TMBIM1) | NP_001308365.1:n.-216-557T>G | |
| NM_001321438.2:c.-308-4314T>G (TMBIM1) | NP_001308367.1:n.-308-4314T>G | |
| NR_135643.2:n.38+5971T>G (TMBIM1) |