gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38580514 (AFR)
Genomes Max Group AF
0.38580514 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.112477584T>C , CM000665.2:g.112477584T>C | GRCh38 |
| NC_000003.11:g.112196431T>C , CM000665.1:g.112196431T>C | GRCh37 |
| NC_000003.10:g.113679121T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334529.10:c.403+1871A>G MANE Select | ENSP00000333919.5:n.403+1871A>G | |
| ENST00000334529.9:c.403+1871A>G | ENSP00000333919.5:n.403+1871A>G | |
| ENST00000383680.4:c.403+1871A>G | ENSP00000373178.4:n.403+1871A>G | |
| NM_001085357.1:c.403+1871A>G | NP_001078826.1:n.403+1871A>G | |
| NM_181780.3:c.403+1871A>G | NP_861445.3:n.403+1871A>G | |
| XM_011512446.1:c.403+1871A>G | XP_011510748.1:n.403+1871A>G | |
| XM_011512447.1:c.403+1871A>G | XP_011510749.1:n.403+1871A>G | |
| XM_011512447.3:c.403+1871A>G | XP_011510749.1:n.403+1871A>G | |
| XM_017005748.2:c.403+1871A>G | XP_016861237.1:n.403+1871A>G | |
| NM_181780.4:c.403+1871A>G MANE Select | NP_861445.4:n.403+1871A>G | |
| NM_001085357.2:c.403+1871A>G | NP_001078826.1:n.403+1871A>G |