gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6974427A>G , CM000674.2:g.6974427A>G | GRCh38 |
| NC_000012.11:g.7083589A>G , CM000674.1:g.7083589A>G | GRCh37 |
| NC_000012.10:g.6953850A>G | NCBI36 |
| NG_021408.1:g.8647A>G | |
| NG_021408.2:g.8647A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599672.6:c.257A>G MANE Select | ENSP00000470560.1:p.Asp86Gly | |
| ENST00000261406.7:c.239A>G | ENSP00000476966.2:p.Asp80Gly | |
| ENST00000539196.2:c.120A>G | ||
| ENST00000599672.5:c.257A>G | ENSP00000470560.1:p.Asp86Gly | |
| ENST00000607161.5:c.260A>G | ENSP00000480420.1:p.Asp87Gly | |
| ENST00000611981.1:n.268A>G | ||
| ENST00000620255.1:n.246A>G | ||
| NM_006331.7:c.257A>G | NP_006322.4:p.Asp86Gly | |
| XM_011520907.1:c.257A>G | XP_011519209.1:p.Asp86Gly | |
| NM_001320049.1:c.257A>G | NP_001306978.1:p.Asp86Gly | |
| NR_135131.1:n.400A>G | ||
| NM_006331.8:c.257A>G MANE Select | NP_006322.4:p.Asp86Gly | |
| NM_001320049.2:c.257A>G | NP_001306978.1:p.Asp86Gly | |
| NR_135131.2:n.268A>G |