gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29989289 (SAS)
Genomes Max Group AF
0.29989289 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64191884A>G , CM000673.2:g.64191884A>G | GRCh38 |
| NC_000011.9:g.63959356A>G , CM000673.1:g.63959356A>G | GRCh37 |
| NC_000011.8:g.63715932A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305218.9:c.10-1194A>G MANE Select | ENSP00000305958.5:n.10-1194A>G | |
| ENST00000305218.8:c.10-1194A>G | ENSP00000305958.4:n.10-1194A>G | |
| ENST00000358794.9:c.151-1194A>G | ENSP00000351646.5:n.151-1194A>G | |
| ENST00000536973.5:c.10-1194A>G | ENSP00000441036.1:n.10-1194A>G | |
| ENST00000538945.5:c.10-1194A>G | ENSP00000445957.1:n.10-1194A>G | |
| ENST00000540501.1:n.220-1194A>G | ||
| ENST00000540736.1:n.38-1194A>G | ||
| ENST00000543847.1:c.10-1194A>G | ENSP00000442704.1:n.10-1194A>G | |
| NM_001282652.1:c.151-1194A>G | NP_001269581.1:n.151-1194A>G | |
| NM_001282653.1:c.10-1194A>G | NP_001269582.1:n.10-1194A>G | |
| NM_006819.2:c.10-1194A>G | NP_006810.1:n.10-1194A>G | |
| NM_001282653.2:c.10-1194A>G | NP_001269582.1:n.10-1194A>G | |
| NM_006819.3:c.10-1194A>G MANE Select | NP_006810.1:n.10-1194A>G | |
| NM_001282652.2:c.151-1194A>G | NP_001269581.1:n.151-1194A>G |