gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25500238 (EAS)
Genomes Max Group AF
0.25500238 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94531732G>A , CM000663.2:g.94531732G>A | GRCh38 |
| NC_000001.10:g.94997288G>A , CM000663.1:g.94997288G>A | GRCh37 |
| NC_000001.9:g.94769876G>A | NCBI36 |
| NG_029366.1:g.15126C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334047.12:c.751+589C>T MANE Select | ENSP00000334145.7:n.751+589C>T | |
| ENST00000334047.11:c.751+589C>T | ENSP00000334145.7:n.751+589C>T | |
| ENST00000370207.4:c.592-1136C>T | ENSP00000359226.4:n.592-1136C>T | |
| NM_001178096.1:c.592-1136C>T | NP_001171567.1:n.592-1136C>T | |
| NM_001993.4:c.751+589C>T | NP_001984.1:n.751+589C>T | |
| NM_001993.5:c.751+589C>T MANE Select | NP_001984.1:n.751+589C>T | |
| NM_001178096.2:c.592-1136C>T | NP_001171567.1:n.592-1136C>T |