gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61013111 (AFR)
Genomes Max Group AF
0.61013111 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.27107360C>T , CM000680.2:g.27107360C>T | GRCh38 |
| NC_000018.9:g.24687324C>T , CM000680.1:g.24687324C>T | GRCh37 |
| NC_000018.8:g.22941322C>T | NCBI36 |
| NG_029856.1:g.82966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618847.5:c.121+35329G>A MANE Select | ENSP00000480991.1:n.121+35329G>A | |
| ENST00000580774.2:c.121+35329G>A | ENSP00000464655.1:n.121+35329G>A | |
| ENST00000581714.5:c.121+35329G>A | ENSP00000462852.1:n.121+35329G>A | |
| ENST00000618847.4:c.121+35329G>A | ENSP00000480991.1:n.121+35329G>A | |
| NM_001256316.1:c.121+35329G>A | NP_001243245.1:n.121+35329G>A | |
| NM_031422.5:c.121+35329G>A | NP_113610.2:n.121+35329G>A | |
| XM_006722555.2:c.121+35329G>A | XP_006722618.1:n.121+35329G>A | |
| XM_006722555.4:c.121+35329G>A | XP_006722618.1:n.121+35329G>A | |
| XM_017026033.1:c.121+35329G>A | XP_016881522.1:n.121+35329G>A | |
| XM_017026034.1:c.-148+35329G>A | XP_016881523.1:n.-148+35329G>A | |
| NM_031422.6:c.121+35329G>A MANE Select | NP_113610.2:n.121+35329G>A | |
| NM_001256316.2:c.121+35329G>A | NP_001243245.1:n.121+35329G>A | |
| NM_001398493.1:c.121+35329G>A | NP_001385422.1:n.121+35329G>A |