gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18606006 (SAS)
Genomes Max Group AF
0.18606006 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48738472T>C , CM000682.2:g.48738472T>C | GRCh38 |
| NC_000020.10:g.47355009T>C , CM000682.1:g.47355009T>C | GRCh37 |
| NC_000020.9:g.46788416T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371941.4:c.415-3822A>G MANE Select | ENSP00000361009.3:n.415-3822A>G | |
| ENST00000371941.3:c.415-3822A>G | ENSP00000361009.3:n.415-3822A>G | |
| NM_020820.3:c.415-3822A>G | NP_065871.2:n.415-3822A>G | |
| NM_020820.4:c.415-3822A>G MANE Select | NP_065871.3:n.415-3822A>G |