gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19214227 (EAS)
Genomes Max Group AF
0.19214227 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169629504G>A , CM000663.2:g.169629504G>A | GRCh38 |
| NC_000001.10:g.169598742G>A , CM000663.1:g.169598742G>A | GRCh37 |
| NC_000001.9:g.167865366G>A | NCBI36 |
| NG_012125.1:g.5636C>T | |
| NG_012125.2:g.5636C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263686.11:c.3+568C>T MANE Select | ENSP00000263686.5:n.3+568C>T | |
| ENST00000263686.10:c.3+568C>T | ENSP00000263686.5:n.3+568C>T | |
| ENST00000367786.6:c.3+568C>T | ENSP00000356760.1:n.3+568C>T | |
| ENST00000367788.6:c.3+568C>T | ENSP00000356762.1:n.3+568C>T | |
| ENST00000367795.2:c.3+568C>T | ENSP00000356769.2:n.3+568C>T | |
| ENST00000458599.6:c.3+568C>T | ENSP00000399368.2:n.3+568C>T | |
| NM_003005.3:c.3+568C>T | NP_002996.2:n.3+568C>T | |
| XM_005245435.1:c.3+568C>T | XP_005245492.1:n.3+568C>T | |
| XM_005245436.2:c.3+568C>T | XP_005245493.1:n.3+568C>T | |
| XM_005245438.1:c.3+568C>T | XP_005245495.1:n.3+568C>T | |
| XM_005245439.1:c.3+568C>T | XP_005245496.1:n.3+568C>T | |
| XM_005245440.1:c.3+568C>T | XP_005245497.1:n.3+568C>T | |
| XM_005245435.2:c.3+568C>T | XP_005245492.1:n.3+568C>T | |
| XM_005245436.4:c.3+568C>T | XP_005245493.1:n.3+568C>T | |
| XM_005245438.2:c.3+568C>T | XP_005245495.1:n.3+568C>T | |
| XM_005245439.2:c.3+568C>T | XP_005245496.1:n.3+568C>T | |
| XM_005245440.2:c.3+568C>T | XP_005245497.1:n.3+568C>T | |
| NM_003005.4:c.3+568C>T MANE Select | NP_002996.2:n.3+568C>T |