gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00168694 (NFE)
Genomes Max Group AF
0.00146669 (NFE)
Exomes Max Group AF
0.00168678 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231267836T>C , CM000663.2:g.231267836T>C | GRCh38 |
| NC_000001.10:g.231403582T>C , CM000663.1:g.231403582T>C | GRCh37 |
| NC_000001.9:g.229470205T>C | NCBI36 |
| NG_008240.1:g.31664T>C | |
| NG_008240.2:g.31664T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.1212T>C MANE Select | ENSP00000355607.4:p.Ala404= | |
| ENST00000644483.1:c.*898T>C | ENSP00000496537.1:n.*898T>C | |
| ENST00000366647.8:c.1212T>C | ENSP00000355607.4:p.Ala404= | |
| ENST00000416000.1:c.1182T>C | ENSP00000411640.1:p.Ala394= | |
| ENST00000492459.1:n.320T>C | ||
| NM_001316350.1:c.1029T>C | NP_001303279.1:p.Ala343= | |
| NM_014236.3:c.1212T>C | NP_055051.1:p.Ala404= | |
| XM_005273313.3:c.1209T>C | XP_005273370.1:p.Ala403= | |
| XM_011544303.1:c.885T>C | XP_011542605.1:p.Ala295= | |
| XM_011544304.1:c.885T>C | XP_011542606.1:p.Ala295= | |
| XM_005273313.4:c.1209T>C | XP_005273370.1:p.Ala403= | |
| XM_011544303.3:c.885T>C | XP_011542605.1:p.Ala295= | |
| XM_011544304.2:c.885T>C | XP_011542606.1:p.Ala295= | |
| NM_014236.4:c.1212T>C MANE Select | NP_055051.1:p.Ala404= | |
| NM_001316350.2:c.1029T>C | NP_001303279.1:p.Ala343= |