gnomAD v4:
Joint Max Group AF
0.00000623 (NFE)
Exomes Max Group AF
0.00000729 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67674994A>C , CM000678.2:g.67674994A>C | GRCh38 |
| NC_000016.9:g.67708897A>C , CM000678.1:g.67708897A>C | GRCh37 |
| NC_000016.8:g.66266398A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268797.12:c.*161T>G MANE Select | ENSP00000268797.7:n.*161T>G | |
| ENST00000268797.11:c.*161T>G | ENSP00000268797.7:n.*161T>G | |
| ENST00000602377.1:c.*997T>G | ENSP00000477784.1:n.*997T>G | |
| ENST00000602522.1:n.2491T>G | ||
| NM_030819.3:c.*161T>G | NP_110446.3:n.*161T>G | |
| NR_027398.1:n.1268T>G | ||
| XM_006721288.2:c.*161T>G | XP_006721351.1:n.*161T>G | |
| XM_006721288.4:c.*161T>G | XP_006721351.1:n.*161T>G | |
| NM_030819.4:c.*161T>G MANE Select | NP_110446.3:n.*161T>G | |
| NR_027398.2:n.1214T>G |