ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00473092 (AFR)
Genomes Max Group AF
0.00443512 (AFR)
Exomes Max Group AF
0.00471775 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753881T>A , CM000673.2:g.64753881T>A | GRCh38 |
| NC_000011.9:g.64521353T>A , CM000673.1:g.64521353T>A | GRCh37 |
| NC_000011.8:g.64277929T>A | NCBI36 |
| NG_013018.1:g.11835A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1237A>T MANE Select | ENSP00000164139.3:p.Asn413Tyr | |
| ENST00000164139.3:c.1237A>T | ENSP00000164139.3:p.Asn413Tyr | |
| ENST00000377432.7:c.973A>T | ENSP00000366650.3:p.Asn325Tyr | |
| ENST00000460413.1:n.314A>T | ||
| NM_001164716.1:c.973A>T | NP_001158188.1:p.Asn325Tyr | |
| NM_005609.2:c.1237A>T | NP_005600.1:p.Asn413Tyr | |
| NM_005609.3:c.1237A>T | NP_005600.1:p.Asn413Tyr | |
| NM_005609.4:c.1237A>T MANE Select | NP_005600.1:p.Asn413Tyr |