dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06815231 (MID)
Genomes Max Group AF
0.06188142 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51524725T>C , CM000682.2:g.51524725T>C | GRCh38 |
| NC_000020.10:g.50141264T>C , CM000682.1:g.50141264T>C | GRCh37 |
| NC_000020.9:g.49574671T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371564.8:c.131-615A>G MANE Select | ENSP00000360619.3:n.131-615A>G | |
| ENST00000371564.7:c.131-615A>G | ENSP00000360619.3:n.131-615A>G | |
| ENST00000396009.7:c.131-615A>G | ENSP00000379330.3:n.131-615A>G | |
| ENST00000414705.5:c.71-615A>G | ENSP00000396471.1:n.71-615A>G | |
| ENST00000609507.1:c.-13-1129A>G | ENSP00000477342.1:n.-13-1129A>G | |
| ENST00000609943.5:c.71-615A>G | ENSP00000477370.1:n.71-615A>G | |
| ENST00000610033.5:c.-13-1129A>G | ENSP00000477142.1:n.-13-1129A>G | |
| NM_001136021.2:c.71-615A>G | NP_001129493.1:n.71-615A>G | |
| NM_001258292.1:c.71-615A>G | NP_001245221.1:n.71-615A>G | |
| NM_001258294.1:c.-13-1129A>G | NP_001245223.1:n.-13-1129A>G | |
| NM_001258295.1:c.-13-1129A>G | NP_001245224.1:n.-13-1129A>G | |
| NM_001258296.1:c.-13-1129A>G | NP_001245225.1:n.-13-1129A>G | |
| NM_001258297.1:c.-13-1129A>G | NP_001245226.1:n.-13-1129A>G | |
| NM_012340.4:c.131-615A>G | NP_036472.2:n.131-615A>G | |
| NM_173091.3:c.131-615A>G | NP_775114.1:n.131-615A>G | |
| XM_011528824.1:c.131-615A>G | XP_011527126.1:n.131-615A>G | |
| XM_011528825.1:c.71-615A>G | XP_011527127.1:n.71-615A>G | |
| XM_011528826.1:c.-13-1129A>G | XP_011527128.1:n.-13-1129A>G | |
| XM_011528824.2:c.131-615A>G | XP_011527126.1:n.131-615A>G | |
| XM_011528825.2:c.71-615A>G | XP_011527127.1:n.71-615A>G | |
| XM_011528826.2:c.-13-1129A>G | XP_011527128.1:n.-13-1129A>G | |
| XM_017027850.1:c.-13-1129A>G | XP_016883339.1:n.-13-1129A>G | |
| XM_017027851.1:c.131-615A>G | XP_016883340.1:n.131-615A>G | |
| NM_012340.5:c.131-615A>G MANE Select | NP_036472.2:n.131-615A>G | |
| NM_001136021.3:c.71-615A>G | NP_001129493.1:n.71-615A>G | |
| NM_001258292.2:c.71-615A>G | NP_001245221.1:n.71-615A>G | |
| NM_001258294.2:c.-13-1129A>G | NP_001245223.1:n.-13-1129A>G | |
| NM_001258295.2:c.-13-1129A>G | NP_001245224.1:n.-13-1129A>G | |
| NM_001258296.2:c.-13-1129A>G | NP_001245225.1:n.-13-1129A>G | |
| NM_001258297.2:c.-13-1129A>G | NP_001245226.1:n.-13-1129A>G | |
| NM_173091.4:c.131-615A>G | NP_775114.1:n.131-615A>G |