gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42188097 (SAS)
Genomes Max Group AF
0.42188097 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.15140098A>G , CM000682.2:g.15140098A>G | GRCh38 |
| NC_000020.10:g.15120744A>G , CM000682.1:g.15120744A>G | GRCh37 |
| NC_000020.9:g.15068744A>G | NCBI36 |
| NG_054905.1:g.1149599A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684519.1:c.419-89842A>G MANE Select | ENSP00000507484.1:n.419-89842A>G | |
| ENST00000642719.1:c.419-89842A>G | ENSP00000496601.1:n.419-89842A>G | |
| ENST00000217246.8:c.419-89842A>G | ENSP00000217246.4:n.419-89842A>G | |
| NM_080676.5:c.419-89842A>G | NP_542407.2:n.419-89842A>G | |
| NM_001351661.1:c.419-89842A>G | NP_001338590.1:n.419-89842A>G | |
| NM_001351663.1:c.419-89842A>G | NP_001338592.1:n.419-89842A>G | |
| NM_001351661.2:c.419-89842A>G MANE Select | NP_001338590.1:n.419-89842A>G | |
| NM_001351663.2:c.419-89842A>G | NP_001338592.1:n.419-89842A>G | |
| NM_080676.6:c.419-89842A>G | NP_542407.2:n.419-89842A>G |