gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55411048 (NFE)
Genomes Max Group AF
0.5539229 (NFE)
Exomes Max Group AF
0.54956108 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99865020A>G , CM000671.2:g.99865020A>G | GRCh38 |
| NC_000009.11:g.102627302A>G , CM000671.1:g.102627302A>G | GRCh37 |
| NC_000009.10:g.101667123A>G | NCBI36 |
| NG_028910.1:g.48166A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395097.7:c.*1153A>G MANE Select | ENSP00000378531.2:n.*1153A>G | |
| ENST00000330847.1:c.*1153A>G | ENSP00000333122.1:n.*1153A>G | |
| ENST00000395097.6:c.*1153A>G | ENSP00000378531.2:n.*1153A>G | |
| ENST00000618101.4:c.*1153A>G | ENSP00000482027.1:n.*1153A>G | |
| NM_006981.3:c.*1153A>G | NP_008912.2:n.*1153A>G | |
| NM_173200.2:c.*1153A>G | NP_775292.1:n.*1153A>G | |
| XM_011519048.1:c.*1153A>G | XP_011517350.1:n.*1153A>G | |
| XM_011519049.1:c.*1153A>G | XP_011517351.1:n.*1153A>G | |
| XM_017015162.1:c.*1153A>G | XP_016870651.1:n.*1153A>G | |
| NM_006981.4:c.*1153A>G MANE Select | NP_008912.2:n.*1153A>G | |
| NM_173200.3:c.*1153A>G | NP_775292.1:n.*1153A>G |