gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00129892 (SAS)
Genomes Max Group AF
0.00112243 (SAS)
Exomes Max Group AF
0.00126348 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139021239A>G , CM000667.2:g.139021239A>G | GRCh38 |
| NC_000005.9:g.138356928A>G , CM000667.1:g.138356928A>G | GRCh37 |
| NC_000005.8:g.138384827A>G | NCBI36 |
| NG_008112.1:g.182138T>C | |
| NG_008112.2:g.182138T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.699T>C MANE Select | ENSP00000378294.2:p.Asn233= | |
| ENST00000265195.9:c.699T>C | ENSP00000265195.5:p.Asn233= | |
| ENST00000394817.6:c.699T>C | ENSP00000378294.2:p.Asn233= | |
| ENST00000503732.1:n.526T>C | ||
| ENST00000505945.1:c.117T>C | ENSP00000425136.1:p.Asn39= | |
| ENST00000509534.5:c.720T>C | ENSP00000426858.1:p.Asn240= | |
| NM_001037633.1:c.699T>C | NP_001032722.1:p.Asn233= | |
| NM_022464.4:c.699T>C | NP_071909.1:p.Asn233= | |
| XM_011543570.1:c.729T>C | XP_011541872.1:p.Asn243= | |
| XM_011543570.2:c.729T>C | XP_011541872.1:p.Asn243= | |
| XM_024446164.1:c.699T>C | XP_024301932.1:p.Asn233= | |
| NM_022464.5:c.699T>C MANE Select | NP_071909.1:p.Asn233= | |
| NM_001037633.2:c.699T>C | NP_001032722.1:p.Asn233= |