gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25417864 (AFR)
Genomes Max Group AF
0.24792405 (AFR)
Exomes Max Group AF
0.25909696 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3810639A>G , CM000678.2:g.3810639A>G | GRCh38 |
| NC_000016.9:g.3860640A>G , CM000678.1:g.3860640A>G | GRCh37 |
| NC_000016.8:g.3800641A>G | NCBI36 |
| NG_009873.1:g.74482T>C | |
| NG_009873.2:g.75075T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.939T>C MANE Select | ENSP00000262367.5:p.Asp313= | |
| ENST00000262367.9:c.939T>C | ENSP00000262367.5:p.Asp313= | |
| ENST00000382070.7:c.939T>C | ENSP00000371502.3:p.Asp313= | |
| NM_001079846.1:c.939T>C | NP_001073315.1:p.Asp313= | |
| NM_004380.2:c.939T>C | NP_004371.2:p.Asp313= | |
| XM_005255124.3:c.939T>C | XP_005255181.1:p.Asp313= | |
| XM_005255125.3:c.939T>C | XP_005255182.1:p.Asp313= | |
| XM_006720848.2:c.939T>C | XP_006720911.1:p.Asp313= | |
| XM_011522380.1:c.885T>C | XP_011520682.1:p.Asp295= | |
| XM_011522381.1:c.186T>C | XP_011520683.1:p.Asp62= | |
| XM_011522382.1:c.939T>C | XP_011520684.1:p.Asp313= | |
| XM_005255124.4:c.939T>C | XP_005255181.1:p.Asp313= | |
| XM_005255125.4:c.939T>C | XP_005255182.1:p.Asp313= | |
| XM_006720848.3:c.939T>C | XP_006720911.1:p.Asp313= | |
| XM_011522381.2:c.186T>C | XP_011520683.1:p.Asp62= | |
| XM_011522382.3:c.939T>C | XP_011520684.1:p.Asp313= | |
| XM_017022944.1:c.939T>C | XP_016878433.1:p.Asp313= | |
| NM_004380.3:c.939T>C MANE Select | NP_004371.2:p.Asp313= |