gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0060016 (EAS)
Genomes Max Group AF
0.00089481 (AFR)
Exomes Max Group AF
0.00660123 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69335337G>A , CM000678.2:g.69335337G>A | GRCh38 |
| NC_000016.9:g.69369240G>A , CM000678.1:g.69369240G>A | GRCh37 |
| NC_000016.8:g.67926741G>A | NCBI36 |
| NG_009013.1:g.9287C>T | |
| NG_033043.1:g.259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.597C>T MANE Select | ENSP00000305459.6:p.Asn199= | |
| ENST00000306875.8:c.597C>T | ENSP00000305459.4:p.Asn199= | |
| ENST00000562081.2:c.597C>T | ENSP00000455954.1:p.Asn199= | |
| ENST00000562595.5:c.538C>T | ||
| ENST00000563634.1:c.222C>T | ENSP00000454500.1:p.Asn74= | |
| ENST00000564737.1:c.686C>T | ||
| ENST00000567493.1:c.177C>T | ENSP00000464395.1:p.Asn59= | |
| ENST00000570293.5:c.536C>T | ENSP00000464417.1:n.536C>T | |
| NM_032382.4:c.597C>T | NP_115758.3:p.Asn199= | |
| NM_001374871.1:c.597C>T | NP_001361800.1:p.Asn199= | |
| NM_032382.5:c.597C>T MANE Select | NP_115758.3:p.Asn199= | |
| NM_001379261.1:c.597C>T | NP_001366190.1:p.Asn199= | |
| NM_001379262.1:c.597C>T | NP_001366191.1:p.Asn199= | |
| NM_001379263.1:c.597C>T | NP_001366192.1:p.Asn199= | |
| NM_001379264.1:c.597C>T | NP_001366193.1:p.Asn199= | |
| NM_001379265.1:c.597C>T | NP_001366194.1:p.Asn199= | |
| NM_001379266.1:c.597C>T | NP_001366195.1:p.Asn199= |