gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74491258 (EAS)
Genomes Max Group AF
0.74491258 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.28099221G>A , CM000672.2:g.28099221G>A | GRCh38 |
| NC_000010.10:g.28388150G>A , CM000672.1:g.28388150G>A | GRCh37 |
| NC_000010.9:g.28428156G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683449.1:c.953-9380C>T MANE Select | ENSP00000507917.1:n.953-9380C>T | |
| ENST00000337532.9:c.953-9380C>T | ENSP00000337907.5:n.953-9380C>T | |
| ENST00000375719.7:c.953-9380C>T | ENSP00000364871.3:n.953-9380C>T | |
| ENST00000375732.5:c.953-9380C>T | ENSP00000364884.1:n.953-9380C>T | |
| ENST00000441595.2:c.236-9380C>T | ENSP00000398319.1:n.236-9380C>T | |
| ENST00000496637.6:c.953-9380C>T | ENSP00000473899.1:n.953-9380C>T | |
| NM_173496.3:c.953-9380C>T | NP_775767.2:n.953-9380C>T | |
| XM_005252367.2:c.953-9380C>T | XP_005252424.1:n.953-9380C>T | |
| XM_005252368.2:c.953-9380C>T | XP_005252425.1:n.953-9380C>T | |
| XM_011519337.1:c.953-9380C>T | XP_011517639.1:n.953-9380C>T | |
| XM_011519338.1:c.578-9380C>T | XP_011517640.1:n.578-9380C>T | |
| XM_011519339.1:c.578-9380C>T | XP_011517641.1:n.578-9380C>T | |
| XR_930470.1:n.1248-9380C>T | ||
| NM_001318170.1:c.953-9380C>T | NP_001305099.1:n.953-9380C>T | |
| NM_173496.4:c.953-9380C>T | NP_775767.2:n.953-9380C>T | |
| NR_134517.1:n.1290-9380C>T | ||
| NR_134518.1:n.1171-9380C>T | ||
| XM_011519337.2:c.953-9380C>T | XP_011517639.1:n.953-9380C>T | |
| XM_011519338.2:c.578-9380C>T | XP_011517640.1:n.578-9380C>T | |
| XM_017015741.1:c.1196-9380C>T | XP_016871230.1:n.1196-9380C>T | |
| XM_017015742.1:c.947-9380C>T | XP_016871231.1:n.947-9380C>T | |
| NM_001318170.2:c.953-9380C>T MANE Select | NP_001305099.1:n.953-9380C>T | |
| NM_173496.5:c.953-9380C>T | NP_775767.2:n.953-9380C>T | |
| NR_134517.2:n.1288-9380C>T | ||
| NR_134518.2:n.1169-9380C>T |