gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75578302 (SAS)
Genomes Max Group AF
0.75578302 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12140251C>G , CM000665.2:g.12140251C>G | GRCh38 |
| NC_000003.11:g.12181751C>G , CM000665.1:g.12181751C>G | GRCh37 |
| NC_000003.10:g.12156751C>G | NCBI36 |
| NG_011728.2:g.140864C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621198.5:c.378-400C>G MANE Select | ENSP00000480050.1:n.378-400C>G | |
| ENST00000424884.1:n.127-400C>G | ||
| ENST00000620175.4:c.378-400C>G | ENSP00000484916.1:n.378-400C>G | |
| ENST00000621198.4:c.378-400C>G | ENSP00000480050.1:n.378-400C>G | |
| NM_003178.5:c.378-400C>G | NP_003169.2:n.378-400C>G | |
| NM_133625.4:c.378-400C>G | NP_598328.1:n.378-400C>G | |
| XM_006713311.2:c.378-400C>G | XP_006713374.1:n.378-400C>G | |
| XM_006713311.3:c.378-400C>G | XP_006713374.1:n.378-400C>G | |
| XR_001740240.1:n.564-400C>G | ||
| NM_133625.5:c.378-400C>G | NP_598328.1:n.378-400C>G | |
| NM_133625.6:c.378-400C>G MANE Select | NP_598328.1:n.378-400C>G | |
| NM_003178.6:c.378-400C>G | NP_003169.2:n.378-400C>G |