gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79919443G>A , CM000668.2:g.79919443G>A | GRCh38 |
| NC_000006.11:g.80629160G>A , CM000668.1:g.80629160G>A | GRCh37 |
| NC_000006.10:g.80685879G>A | NCBI36 |
| NG_009108.1:g.33156C>T | |
| NG_009108.2:g.33156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369816.5:c.646C>T MANE Select | ENSP00000358831.4:p.Arg216Ter | |
| ENST00000369816.4:c.646C>T | ENSP00000358831.4:p.Arg216Ter | |
| NM_022726.3:c.646C>T | NP_073563.1:p.Arg216Ter | |
| NM_022726.4:c.646C>T MANE Select | NP_073563.1:p.Arg216Ter |