gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00287113 (EAS)
Genomes Max Group AF
0.00287113 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186679617C>A , CM000663.2:g.186679617C>A | GRCh38 |
| NC_000001.10:g.186648749C>A , CM000663.1:g.186648749C>A | GRCh37 |
| NC_000001.9:g.184915372C>A | NCBI36 |
| NG_028206.2:g.5811G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.53-179G>T MANE Select | ENSP00000356438.5:n.53-179G>T | |
| ENST00000680451.1:c.53-179G>T | ENSP00000506242.1:n.53-179G>T | |
| ENST00000681605.1:c.53-179G>T | ENSP00000504900.1:n.53-179G>T | |
| ENST00000367468.9:c.53-179G>T | ENSP00000356438.5:n.53-179G>T | |
| ENST00000490885.6:n.186-179G>T | ||
| ENST00000559627.1:c.53-179G>T | ENSP00000454130.1:n.53-179G>T | |
| ENST00000559800.1:n.186-179G>T | ||
| NM_000963.3:c.53-179G>T | NP_000954.1:n.53-179G>T | |
| NM_000963.4:c.53-179G>T MANE Select | NP_000954.1:n.53-179G>T |