ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02100046 (AFR)
Genomes Max Group AF
0.01958318 (AFR)
Exomes Max Group AF
0.02196077 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673780G>A , CM000671.2:g.136673780G>A | GRCh38 |
| NC_000009.11:g.139568232G>A , CM000671.1:g.139568232G>A | GRCh37 |
| NC_000009.10:g.138688053G>A | NCBI36 |
| NG_008090.1:g.18680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.809C>T MANE Select | ENSP00000360761.2:p.Ala270Val | |
| ENST00000371694.7:c.713C>T | ENSP00000360759.3:p.Ala238Val | |
| ENST00000371696.6:c.809C>T | ENSP00000360761.2:p.Ala270Val | |
| ENST00000472820.1:n.737C>T | ||
| ENST00000538402.1:c.809C>T | ENSP00000438919.1:p.Ala270Val | |
| NM_001012727.1:c.713C>T | NP_001012745.1:p.Ala238Val | |
| NM_006412.3:c.809C>T | NP_006403.2:p.Ala270Val | |
| NM_006412.4:c.809C>T MANE Select | NP_006403.2:p.Ala270Val | |
| NM_001012727.2:c.713C>T | NP_001012745.1:p.Ala238Val |