gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001747 (AFR)
Genomes Max Group AF
0.0000192 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290943T>C , CM000668.2:g.24290943T>C | GRCh38 |
| NC_000006.11:g.24291171T>C , CM000668.1:g.24291171T>C | GRCh37 |
| NC_000006.10:g.24399150T>C | NCBI36 |
| NG_012829.1:g.72110A>G | |
| NG_012829.2:g.97350A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.693A>G MANE Select | ENSP00000367715.3:p.Arg231= | |
| ENST00000378454.7:c.693A>G | ENSP00000367715.3:p.Arg231= | |
| NM_001195610.1:c.693A>G | NP_001182539.1:p.Arg231= | |
| NM_016356.4:c.693A>G | NP_057440.2:p.Arg231= | |
| NM_016356.5:c.693A>G MANE Select | NP_057440.2:p.Arg231= | |
| NM_001195610.2:c.693A>G | NP_001182539.1:p.Arg231= |