gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005969 (EAS)
Exomes Max Group AF
0.00006842 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87550882C>A , CM000669.2:g.87550882C>A | GRCh38 |
| NC_000007.13:g.87180198C>A , CM000669.1:g.87180198C>A | GRCh37 |
| NC_000007.12:g.87018134C>A | NCBI36 |
| NG_011513.1:g.167367G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.1000-44G>T | ENSP00000265724.3:n.1000-44G>T | |
| ENST00000622132.5:c.1000-44G>T MANE Select | ENSP00000478255.1:n.1000-44G>T | |
| ENST00000265724.7:c.1000-44G>T | ENSP00000265724.3:n.1000-44G>T | |
| ENST00000543898.5:c.808-44G>T | ENSP00000444095.1:n.808-44G>T | |
| ENST00000622132.4:c.1000-44G>T | ENSP00000478255.1:n.1000-44G>T | |
| NM_000927.4:c.1000-44G>T | NP_000918.2:n.1000-44G>T | |
| NM_001348944.1:c.1000-44G>T | NP_001335873.1:n.1000-44G>T | |
| NM_001348945.1:c.1210-44G>T | NP_001335874.1:n.1210-44G>T | |
| NM_001348946.1:c.1000-44G>T | NP_001335875.1:n.1000-44G>T | |
| NM_001348946.2:c.1000-44G>T MANE Select | NP_001335875.1:n.1000-44G>T | |
| NM_000927.5:c.1000-44G>T | NP_000918.2:n.1000-44G>T | |
| NM_001348944.2:c.1000-44G>T | NP_001335873.1:n.1000-44G>T | |
| NM_001348945.2:c.1210-44G>T | NP_001335874.1:n.1210-44G>T |