dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12746497 (AFR)
Genomes Max Group AF
0.12746497 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.29728478G>A , CM000683.2:g.29728478G>A | GRCh38 |
| NC_000021.8:g.31100797G>A , CM000683.1:g.31100797G>A | GRCh37 |
| NC_000021.7:g.30022668G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399907.6:c.119-34415C>T | ENSP00000382791.1:n.119-34415C>T | |
| ENST00000327783.9:c.119-34415C>T MANE Select | ENSP00000327687.4:n.119-34415C>T | |
| ENST00000327783.8:c.119-34415C>T | ENSP00000327687.4:n.119-34415C>T | |
| ENST00000389124.6:c.119-34415C>T | ENSP00000373776.2:n.119-34415C>T | |
| ENST00000389125.7:c.119-34415C>T | ENSP00000373777.3:n.119-34415C>T | |
| ENST00000399907.5:c.119-34415C>T | ENSP00000382791.1:n.119-34415C>T | |
| ENST00000399909.5:c.119-34415C>T | ENSP00000382793.1:n.119-34415C>T | |
| ENST00000399913.5:c.119-34415C>T | ENSP00000382797.1:n.119-34415C>T | |
| ENST00000399914.5:c.119-34415C>T | ENSP00000382798.1:n.119-34415C>T | |
| ENST00000472429.1:n.652-34415C>T | ||
| NM_000830.3:c.119-34415C>T | NP_000821.1:n.119-34415C>T | |
| NM_175611.2:c.119-34415C>T | NP_783300.1:n.119-34415C>T | |
| XM_005260942.1:c.119-34415C>T | XP_005260999.1:n.119-34415C>T | |
| XM_005260943.1:c.119-34415C>T | XP_005261000.1:n.119-34415C>T | |
| XM_005260944.2:c.119-34415C>T | XP_005261001.1:n.119-34415C>T | |
| XM_006723991.1:c.119-34415C>T | XP_006724054.1:n.119-34415C>T | |
| XM_011529527.1:c.119-34415C>T | XP_011527829.1:n.119-34415C>T | |
| XM_011529528.1:c.119-34415C>T | XP_011527830.1:n.119-34415C>T | |
| NM_000830.4:c.119-34415C>T | NP_000821.1:n.119-34415C>T | |
| NM_001320616.1:c.119-34415C>T | NP_001307545.1:n.119-34415C>T | |
| NM_001320618.1:c.119-38493C>T | NP_001307547.1:n.119-38493C>T | |
| NM_001320621.1:c.119-55314C>T | NP_001307550.1:n.119-55314C>T | |
| NM_001320630.1:c.119-34415C>T | NP_001307559.1:n.119-34415C>T | |
| NM_001330993.1:c.119-34415C>T | NP_001317922.1:n.119-34415C>T | |
| NM_001330994.1:c.119-34415C>T | NP_001317923.1:n.119-34415C>T | |
| XM_005260944.3:c.119-34415C>T | XP_005261001.1:n.119-34415C>T | |
| XR_001754829.2:n.289-34415C>T | ||
| NM_000830.5:c.119-34415C>T | NP_000821.1:n.119-34415C>T | |
| NM_001320616.2:c.119-34415C>T | NP_001307545.1:n.119-34415C>T | |
| NM_001320618.2:c.119-38493C>T | NP_001307547.1:n.119-38493C>T | |
| NM_001320621.2:c.119-55314C>T | NP_001307550.1:n.119-55314C>T | |
| NM_001330993.2:c.119-34415C>T | NP_001317922.1:n.119-34415C>T | |
| NM_001330994.2:c.119-34415C>T MANE Select | NP_001317923.1:n.119-34415C>T | |
| NM_175611.3:c.119-34415C>T | NP_783300.1:n.119-34415C>T | |
| NM_000830.6:c.119-34415C>T | NP_000821.1:n.119-34415C>T | |
| NM_001320630.2:c.119-34415C>T | NP_001307559.1:n.119-34415C>T | |
| NM_001393424.1:c.119-34415C>T | NP_001380353.1:n.119-34415C>T | |
| NM_001393425.1:c.119-34415C>T | NP_001380354.1:n.119-34415C>T | |
| NM_001393426.1:c.119-38493C>T | NP_001380355.1:n.119-38493C>T |