gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37049744 (EAS)
Genomes Max Group AF
0.37049744 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153782444T>C , CM000666.2:g.153782444T>C | GRCh38 |
| NC_000004.11:g.154703596T>C , CM000666.1:g.154703596T>C | GRCh37 |
| NC_000004.10:g.154923046T>C | NCBI36 |
| NG_046941.1:g.11633A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274063.5:c.584-689A>G MANE Select | ENSP00000274063.4:n.584-689A>G | |
| ENST00000274063.4:c.584-689A>G | ENSP00000274063.4:n.584-689A>G | |
| NM_003013.2:c.584-689A>G | NP_003004.1:n.584-689A>G | |
| NM_003013.3:c.584-689A>G MANE Select | NP_003004.1:n.584-689A>G |