gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35856596 (NFE)
Genomes Max Group AF
0.35856596 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111511840T>C , CM000673.2:g.111511840T>C | GRCh38 |
| NC_000011.9:g.111382565T>C , CM000673.1:g.111382565T>C | GRCh37 |
| NC_000011.8:g.110887775T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689553.1:c.-111+341A>G (BTG4) | ENSP00000508793.1:n.-111+341A>G | |
| ENST00000692032.1:c.-27+341A>G (BTG4) MANE Select | ENSP00000509850.1:n.-27+341A>G | |
| ENST00000356018.6:c.-27+341A>G (BTG4) | ENSP00000348300.2:n.-27+341A>G | |
| ENST00000456861.2:c.-111+341A>G (BTG4) | ENSP00000392358.2:n.-111+341A>G | |
| ENST00000525791.5:c.-27+341A>G (BTG4) | ENSP00000432018.1:n.-27+341A>G | |
| NM_017589.3:c.-27+341A>G (BTG4) | NP_060059.1:n.-27+341A>G | |
| XM_005271601.3:c.-27+341A>G (BTG4) | XP_005271658.1:n.-27+341A>G | |
| XM_011542876.1:c.-27+341A>G (BTG4) | XP_011541178.1:n.-27+341A>G | |
| XM_011542877.1:c.-27+341A>G (BTG4) | XP_011541179.1:n.-27+341A>G | |
| XM_011542878.1:c.-27+341A>G (BTG4) | XP_011541180.1:n.-27+341A>G | |
| XM_011542879.1:c.-27+341A>G (BTG4) | XP_011541181.1:n.-27+341A>G | |
| XM_011542880.1:c.-27+341A>G (BTG4) | XP_011541182.1:n.-27+341A>G | |
| XR_947832.1:n.208+341A>G (BTG4) | ||
| XR_947833.1:n.208+341A>G (BTG4) | ||
| XR_947834.1:n.208+341A>G (BTG4) | ||
| XR_947835.1:n.208+341A>G (BTG4) | ||
| XR_947836.1:n.208+341A>G (BTG4) | ||
| XR_947837.1:n.208+341A>G (BTG4) | ||
| XR_947838.1:n.67+2827A>G (BTG4) | ||
| XR_947839.1:n.208+341A>G (BTG4) | ||
| XR_947840.1:n.118+2378A>G (BTG4) | ||
| XR_947843.1:n.208+341A>G (BTG4) | ||
| XR_947844.1:n.208+341A>G (BTG4) | ||
| XR_947845.1:n.208+341A>G (BTG4) | ||
| XR_947846.1:n.208+341A>G (BTG4) | ||
| XR_947847.1:n.208+341A>G (BTG4) | ||
| XR_947848.1:n.208+341A>G (BTG4) | ||
| XR_947849.1:n.208+341A>G (BTG4) | ||
| XR_947850.1:n.208+341A>G (BTG4) | ||
| XR_947851.1:n.208+341A>G (BTG4) | ||
| XR_947852.1:n.208+341A>G (BTG4) | ||
| XR_947853.1:n.208+341A>G (BTG4) | ||
| XR_947854.1:n.208+341A>G (BTG4) | ||
| XR_947855.1:n.208+341A>G (BTG4) | ||
| NR_147706.1:n.271+968T>C (MIR34BHG) | ||
| XM_011542876.2:c.-27+341A>G (BTG4) | XP_011541178.1:n.-27+341A>G | |
| XM_011542878.3:c.-27+341A>G (BTG4) | XP_011541180.1:n.-27+341A>G | |
| XM_011542879.2:c.-27+341A>G (BTG4) | XP_011541181.1:n.-27+341A>G | |
| XM_011542880.2:c.-27+341A>G (BTG4) | XP_011541182.1:n.-27+341A>G | |
| XM_024448587.1:c.-27+341A>G (BTG4) | XP_024304355.1:n.-27+341A>G | |
| XM_024448588.1:c.-111+341A>G (BTG4) | XP_024304356.1:n.-111+341A>G | |
| XM_024448589.1:c.-27+2827A>G (BTG4) | XP_024304357.1:n.-27+2827A>G | |
| XM_024448590.1:c.-124+341A>G (BTG4) | XP_024304358.1:n.-124+341A>G | |
| XM_024448591.1:c.-27+2378A>G (BTG4) | XP_024304359.1:n.-27+2378A>G | |
| XM_024448592.1:c.-98+341A>G (BTG4) | XP_024304360.1:n.-98+341A>G | |
| XM_024448593.1:c.-27+341A>G (BTG4) | XP_024304361.1:n.-27+341A>G | |
| XR_001747911.2:n.208+341A>G (BTG4) | ||
| XR_002957152.1:n.208+341A>G (BTG4) | ||
| XR_947834.2:n.208+341A>G (BTG4) | ||
| XR_947835.2:n.208+341A>G (BTG4) | ||
| XR_947848.2:n.208+341A>G (BTG4) | ||
| XR_947849.2:n.208+341A>G (BTG4) | ||
| XR_947851.2:n.208+341A>G (BTG4) | ||
| XR_947852.2:n.208+341A>G (BTG4) | ||
| XR_947855.2:n.208+341A>G (BTG4) | ||
| NM_001367974.1:c.-27+2827A>G (BTG4) | NP_001354903.1:n.-27+2827A>G | |
| NM_001367975.1:c.-27+341A>G (BTG4) MANE Select | NP_001354904.1:n.-27+341A>G | |
| NM_001367976.1:c.-27+341A>G (BTG4) | NP_001354905.1:n.-27+341A>G | |
| NM_017589.4:c.-27+341A>G (BTG4) | NP_060059.1:n.-27+341A>G |