gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002863 (SAS)
Exomes Max Group AF
0.00002995 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48530596T>C , CM000679.2:g.48530596T>C | GRCh38 |
| NC_000017.10:g.46607958T>C , CM000679.1:g.46607958T>C | GRCh37 |
| NC_000017.9:g.43962957T>C | NCBI36 |
| NG_032884.1:g.5315A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239174.7:c.309A>G MANE Select | ENSP00000355140.5:p.Gln103= | |
| ENST00000239174.6:c.309A>G | ENSP00000355140.5:p.Gln103= | |
| ENST00000577092.1:c.309A>G | ENSP00000459066.1:p.Gln103= | |
| NM_002144.3:c.309A>G | NP_002135.2:p.Gln103= | |
| NM_002144.4:c.309A>G MANE Select | NP_002135.2:p.Gln103= |