gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000554 (AMR)
Exomes Max Group AF
0.00000743 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157309C>A , CM000681.2:g.55157309C>A | GRCh38 |
| NC_000019.9:g.55668677C>A , CM000681.1:g.55668677C>A | GRCh37 |
| NC_000019.8:g.60360489C>A | NCBI36 |
| NG_007866.2:g.5424G>T , LRG_432:g.5424G>T | |
| NG_032759.1:g.14414G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.12-1G>T MANE Select | ENSP00000341838.5:n.12-1G>T | |
| ENST00000665070.1:c.12-1G>T | ENSP00000499482.1:n.12-1G>T | |
| ENST00000344887.9:c.12-1G>T | ENSP00000341838.5:n.12-1G>T | |
| ENST00000586446.1:n.172-181G>T | ||
| ENST00000587176.5:n.196-1G>T | ||
| ENST00000587871.1:c.649-181G>T | ||
| ENST00000590463.1:n.139-1G>T | ||
| NM_000363.4:c.12-1G>T , LRG_432t1:c.12-1G>T | NP_000354.4:n.12-1G>T | |
| NM_000363.5:c.12-1G>T MANE Select | NP_000354.4:n.12-1G>T |