gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52966565 (EAS)
Genomes Max Group AF
0.52966565 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.16929446A>G , CM000665.2:g.16929446A>G | GRCh38 |
| NC_000003.11:g.16970938A>G , CM000665.1:g.16970938A>G | GRCh37 |
| NC_000003.10:g.16945942A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615277.5:c.327+44080A>G MANE Select | ENSP00000478458.1:n.327+44080A>G | |
| ENST00000460467.1:n.439-80228A>G | ||
| ENST00000615277.4:c.327+44080A>G | ENSP00000478458.1:n.327+44080A>G | |
| NM_001144382.1:c.327+44080A>G | NP_001137854.1:n.327+44080A>G | |
| XM_006713073.2:c.12+29762A>G | XP_006713136.1:n.12+29762A>G | |
| XM_006713073.3:c.12+29762A>G | XP_006713136.1:n.12+29762A>G | |
| XM_017006022.2:c.327+44080A>G | XP_016861511.1:n.327+44080A>G | |
| XM_017006023.1:c.327+44080A>G | XP_016861512.1:n.327+44080A>G | |
| XM_017006024.2:c.327+44080A>G | XP_016861513.1:n.327+44080A>G | |
| XM_017006025.1:c.-155-8109A>G | XP_016861514.1:n.-155-8109A>G | |
| NM_001144382.2:c.327+44080A>G MANE Select | NP_001137854.1:n.327+44080A>G |