gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001655 (AMR)
Genomes Max Group AF
0.00002273 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49055457T>G , CM000679.2:g.49055457T>G | GRCh38 |
| NC_000017.10:g.47132819T>G , CM000679.1:g.47132819T>G | GRCh37 |
| NC_000017.9:g.44487818T>G | NCBI36 |
| NG_030585.1:g.63046T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290341.8:c.*6013T>G MANE Select | ENSP00000290341.3:n.*6013T>G | |
| ENST00000290341.7:c.*6013T>G | ENSP00000290341.3:n.*6013T>G | |
| NM_001160423.1:c.*6013T>G | NP_001153895.1:n.*6013T>G | |
| NM_006546.3:c.*6013T>G | NP_006537.3:n.*6013T>G | |
| XM_005256955.2:c.*6013T>G | XP_005257012.2:n.*6013T>G | |
| XM_011524201.1:c.*6013T>G | XP_011522503.1:n.*6013T>G | |
| XM_005256955.3:c.*6013T>G | XP_005257012.2:n.*6013T>G | |
| XM_011524201.2:c.*6013T>G | XP_011522503.1:n.*6013T>G | |
| XM_017024022.1:c.*6013T>G | XP_016879511.1:n.*6013T>G | |
| NM_006546.4:c.*6013T>G MANE Select | NP_006537.3:n.*6013T>G | |
| NM_001160423.2:c.*6013T>G | NP_001153895.1:n.*6013T>G |