gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88750644 (EAS)
Genomes Max Group AF
0.88750644 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.157586742G>A , CM000663.2:g.157586742G>A | GRCh38 |
| NC_000001.10:g.157556532G>A , CM000663.1:g.157556532G>A | GRCh37 |
| NC_000001.9:g.155823156G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271532.2:c.848-287C>T MANE Select | ENSP00000271532.1:n.848-287C>T | |
| ENST00000271532.1:c.848-287C>T | ENSP00000271532.1:n.848-287C>T | |
| ENST00000448509.6:n.589-287C>T | ||
| NM_031282.2:c.848-287C>T | NP_112572.1:n.848-287C>T | |
| XM_011510034.1:c.845-287C>T | XP_011508336.1:n.845-287C>T | |
| NM_031282.3:c.848-287C>T MANE Select | NP_112572.1:n.848-287C>T |