gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3968454 (AFR)
Genomes Max Group AF
0.3968454 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.28354519A>G , CM000668.2:g.28354519A>G | GRCh38 |
| NC_000006.11:g.28322296A>G , CM000668.1:g.28322296A>G | GRCh37 |
| NC_000006.10:g.28430275A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252211.7:c.-63+4452A>G (ZKSCAN3) MANE Select | ENSP00000252211.2:n.-63+4452A>G | |
| ENST00000252211.6:c.-63+4452A>G (ZKSCAN3) | ENSP00000252211.2:n.-63+4452A>G | |
| ENST00000341464.9:c.-43+4452A>G (ZKSCAN3) | ENSP00000341883.5:n.-43+4452A>G | |
| ENST00000377255.3:c.-63+4131A>G (ZKSCAN3) | ENSP00000366465.1:n.-63+4131A>G | |
| ENST00000414429.5:c.-326-567T>C (ZSCAN31) | ENSP00000390076.1:n.-326-567T>C | |
| NM_001242894.1:c.-63+4131A>G (ZKSCAN3) | NP_001229823.1:n.-63+4131A>G | |
| NM_001242895.1:c.-43+4452A>G (ZKSCAN3) | NP_001229824.1:n.-43+4452A>G | |
| NM_024493.3:c.-63+4452A>G (ZKSCAN3) | NP_077819.2:n.-63+4452A>G | |
| XM_006715215.1:c.-63+4555A>G (ZKSCAN3) | XP_006715278.1:n.-63+4555A>G | |
| XM_006715216.1:c.-63+4452A>G (ZKSCAN3) | XP_006715279.1:n.-63+4452A>G | |
| XM_006715219.2:c.-43+4555A>G (ZKSCAN3) | XP_006715282.1:n.-43+4555A>G | |
| NM_001135215.1:c.-326-567T>C (ZSCAN31) | NP_001128687.1:n.-326-567T>C | |
| XM_005249296.5:c.-843T>C (ZSCAN31) | XP_005249353.1:n.-843T>C | |
| XM_006715215.2:c.-63+4555A>G (ZKSCAN3) | XP_006715278.1:n.-63+4555A>G | |
| XM_006715216.2:c.-63+4452A>G (ZKSCAN3) | XP_006715279.1:n.-63+4452A>G | |
| XM_011514807.3:c.-893T>C (ZSCAN31) | XP_011513109.1:n.-893T>C | |
| XM_011514808.3:c.-689T>C (ZSCAN31) | XP_011513110.1:n.-689T>C | |
| XM_017011196.2:c.-981T>C (ZSCAN31) | XP_016866685.1:n.-981T>C | |
| XM_017011320.1:c.-63+4131A>G (ZKSCAN3) | XP_016866809.1:n.-63+4131A>G | |
| XM_024446521.1:c.-447T>C (ZSCAN31) | XP_024302289.1:n.-447T>C | |
| XM_024446522.1:c.-908T>C (ZSCAN31) | XP_024302290.1:n.-908T>C | |
| XM_024446523.1:c.-1046T>C (ZSCAN31) | XP_024302291.1:n.-1046T>C | |
| NM_024493.4:c.-63+4452A>G (ZKSCAN3) MANE Select | NP_077819.2:n.-63+4452A>G | |
| NM_001242894.2:c.-63+4131A>G (ZKSCAN3) | NP_001229823.1:n.-63+4131A>G | |
| NM_001242895.2:c.-43+4452A>G (ZKSCAN3) | NP_001229824.1:n.-43+4452A>G |