gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160650438G>T , CM000668.2:g.160650438G>T | GRCh38 |
| NC_000006.11:g.161071470G>T , CM000668.1:g.161071470G>T | GRCh37 |
| NC_000006.10:g.160991460G>T | NCBI36 |
| NG_016147.1:g.20938C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316300.10:c.109C>A MANE Select | ENSP00000321334.6:p.Arg37= | |
| ENST00000316300.9:c.109C>A | ENSP00000321334.5:p.Arg37= | |
| NM_005577.2:c.109C>A | NP_005568.2:p.Arg37= | |
| NM_005577.3:c.109C>A | NP_005568.2:p.Arg37= | |
| NM_005577.4:c.109C>A MANE Select | NP_005568.2:p.Arg37= |