gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18925117 (EAS)
Genomes Max Group AF
0.18925117 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.9186907C>T , CM000679.2:g.9186907C>T | GRCh38 |
| NC_000017.10:g.9090224C>T , CM000679.1:g.9090224C>T | GRCh37 |
| NC_000017.9:g.9030949C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000173229.7:c.1411+3938C>T MANE Select | ENSP00000173229.2:n.1411+3938C>T | |
| ENST00000173229.6:c.1411+3938C>T | ENSP00000173229.2:n.1411+3938C>T | |
| NM_004822.2:c.1411+3938C>T | NP_004813.2:n.1411+3938C>T | |
| XM_006721595.2:c.1411+3938C>T | XP_006721658.1:n.1411+3938C>T | |
| XM_006721595.3:c.1411+3938C>T | XP_006721658.1:n.1411+3938C>T | |
| NM_004822.3:c.1411+3938C>T MANE Select | NP_004813.2:n.1411+3938C>T |