gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48561276 (AFR)
Genomes Max Group AF
0.48583147 (AFR)
Exomes Max Group AF
0.40505963 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101138164T>G , CM000669.2:g.101138164T>G | GRCh38 |
| NC_000007.13:g.100781445T>G , CM000669.1:g.100781445T>G | GRCh37 |
| NC_000007.12:g.100568165T>G | NCBI36 |
| NG_013213.1:g.16067T>G , LRG_597:g.16067T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223095.5:c.*722T>G MANE Select | ENSP00000223095.4:n.*722T>G | |
| ENST00000223095.4:c.*722T>G | ENSP00000223095.4:n.*722T>G | |
| NM_000602.4:c.*722T>G , LRG_597t1:c.*722T>G | NP_000593.1:n.*722T>G | |
| NM_000602.5:c.*722T>G MANE Select | NP_000593.1:n.*722T>G | |
| NM_001386456.1:c.*722T>G | NP_001373385.1:n.*722T>G | |
| NM_001386457.1:c.*733T>G | NP_001373386.1:n.*733T>G | |
| NM_001386458.1:c.*722T>G | NP_001373387.1:n.*722T>G | |
| NM_001386459.1:c.*67T>G | NP_001373388.1:n.*67T>G | |
| NM_001386460.1:c.*67T>G | NP_001373389.1:n.*67T>G | |
| NM_001386461.1:c.*67T>G | NP_001373390.1:n.*67T>G | |
| NM_001386462.1:c.*722T>G | NP_001373391.1:n.*722T>G | |
| NM_001386463.1:c.*722T>G | NP_001373392.1:n.*722T>G | |
| NM_001386464.1:c.*813T>G | NP_001373393.1:n.*813T>G | |
| NM_001386465.1:c.*722T>G | NP_001373394.1:n.*722T>G | |
| NM_001386466.1:c.*722T>G | NP_001373395.1:n.*722T>G |