gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34350605 (SAS)
Genomes Max Group AF
0.34350605 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89666809G>A , CM000674.2:g.89666809G>A | GRCh38 |
| NC_000012.11:g.90060586G>A , CM000674.1:g.90060586G>A | GRCh37 |
| NC_000012.10:g.88584717G>A | NCBI36 |
| NG_029485.2:g.47545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359142.8:c.-221-10702C>T | ENSP00000352054.3:n.-221-10702C>T | |
| ENST00000551310.2:c.-221-10702C>T | ENSP00000447041.2:n.-221-10702C>T | |
| ENST00000705822.1:c.-221-10702C>T | ENSP00000516172.1:n.-221-10702C>T | |
| ENST00000428670.8:c.-221-10702C>T MANE Select | ENSP00000392043.3:n.-221-10702C>T | |
| ENST00000428670.7:c.-221-10702C>T | ENSP00000392043.3:n.-221-10702C>T | |
| ENST00000551310.1:c.-221-10702C>T | ENSP00000447041.1:n.-221-10702C>T | |
| XM_005268919.1:c.-221-10702C>T | XP_005268976.1:n.-221-10702C>T | |
| XM_011538407.1:c.-221-10702C>T | XP_011536709.1:n.-221-10702C>T | |
| XM_011538408.1:c.-221-10702C>T | XP_011536710.1:n.-221-10702C>T | |
| XM_011538409.1:c.-221-10702C>T | XP_011536711.1:n.-221-10702C>T | |
| XM_011538410.1:c.-221-10702C>T | XP_011536712.1:n.-221-10702C>T | |
| XM_011538411.1:c.-221-10702C>T | XP_011536713.1:n.-221-10702C>T | |
| XM_011538412.1:c.-221-10702C>T | XP_011536714.1:n.-221-10702C>T | |
| XR_944556.1:n.242-10702C>T | ||
| NM_001001323.2:c.-221-10702C>T | NP_001001323.1:n.-221-10702C>T | |
| NM_001366520.1:c.-221-10702C>T | NP_001353449.1:n.-221-10702C>T | |
| NM_001366521.1:c.-221-10702C>T MANE Select | NP_001353450.1:n.-221-10702C>T | |
| NM_001366522.1:c.-221-10702C>T | NP_001353451.1:n.-221-10702C>T | |
| NM_001366523.1:c.-221-10702C>T | NP_001353452.1:n.-221-10702C>T | |
| NM_001366524.1:c.-221-10702C>T | NP_001353453.1:n.-221-10702C>T | |
| NM_001366525.1:c.-221-10702C>T | NP_001353454.1:n.-221-10702C>T | |
| NM_001366526.1:c.-221-10702C>T | NP_001353455.1:n.-221-10702C>T | |
| NM_001366527.1:c.-221-10702C>T | NP_001353456.1:n.-221-10702C>T | |
| NM_001366528.1:c.-221-10702C>T | NP_001353457.1:n.-221-10702C>T | |
| NM_001366529.1:c.-221-10702C>T | NP_001353458.1:n.-221-10702C>T | |
| NM_001366530.1:c.-221-10702C>T | NP_001353459.1:n.-221-10702C>T | |
| NM_001366531.1:c.-221-10702C>T | NP_001353460.1:n.-221-10702C>T | |
| NM_001366532.1:c.-221-10702C>T | NP_001353461.1:n.-221-10702C>T | |
| NM_001682.3:c.-221-10702C>T | NP_001673.2:n.-221-10702C>T | |
| XM_017019357.2:c.-221-10702C>T | XP_016874846.1:n.-221-10702C>T | |
| XM_024448991.1:c.-221-10702C>T | XP_024304759.1:n.-221-10702C>T | |
| XM_024448993.1:c.-221-10702C>T | XP_024304761.1:n.-221-10702C>T | |
| XR_002957330.1:n.242-10702C>T |