ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015354 (AMR)
Genomes Max Group AF
0.00009544 (AFR)
Exomes Max Group AF
0.00018885 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64757899G>A , CM000673.2:g.64757899G>A | GRCh38 |
| NC_000011.9:g.64525371G>A , CM000673.1:g.64525371G>A | GRCh37 |
| NC_000011.8:g.64281947G>A | NCBI36 |
| NG_013018.1:g.7817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.540C>T MANE Select | ENSP00000164139.3:p.Ala180= | |
| ENST00000164139.3:c.540C>T | ENSP00000164139.3:p.Ala180= | |
| ENST00000377432.7:c.276C>T | ENSP00000366650.3:p.Ala92= | |
| NM_001164716.1:c.276C>T | NP_001158188.1:p.Ala92= | |
| NM_005609.2:c.540C>T | NP_005600.1:p.Ala180= | |
| NM_005609.3:c.540C>T | NP_005600.1:p.Ala180= | |
| NM_005609.4:c.540C>T MANE Select | NP_005600.1:p.Ala180= |