gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00371528 (AFR)
Genomes Max Group AF
0.00347438 (AFR)
Exomes Max Group AF
0.00367466 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18890066G>A , CM000663.2:g.18890066G>A | GRCh38 |
| NC_000001.10:g.19216560G>A , CM000663.1:g.19216560G>A | GRCh37 |
| NC_000001.9:g.19089147G>A | NCBI36 |
| NG_012283.1:g.17734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.102C>T MANE Select | ENSP00000364490.3:p.Asn34= | |
| ENST00000290597.9:c.102C>T | ENSP00000290597.5:p.Asn34= | |
| ENST00000375341.7:c.102C>T | ENSP00000364490.3:p.Asn34= | |
| ENST00000432718.1:c.102C>T | ENSP00000393209.1:p.Asn34= | |
| ENST00000494072.3:c.1039C>T | ||
| ENST00000538309.5:c.-79C>T | ENSP00000442988.1:n.-79C>T | |
| ENST00000538839.5:c.102C>T | ENSP00000446071.1:p.Asn34= | |
| NM_001161504.1:c.-79C>T | NP_001154976.1:n.-79C>T | |
| NM_003748.3:c.102C>T | NP_003739.2:p.Asn34= | |
| NM_170726.2:c.102C>T | NP_733844.1:p.Asn34= | |
| XM_011542352.1:c.102C>T | XP_011540654.1:p.Asn34= | |
| XM_011542353.1:c.102C>T | XP_011540655.1:p.Asn34= | |
| XR_946786.1:n.159C>T | ||
| NM_001319218.1:c.102C>T | NP_001306147.1:p.Asn34= | |
| XR_001737510.1:n.159C>T | ||
| NM_003748.4:c.102C>T MANE Select | NP_003739.2:p.Asn34= | |
| NM_170726.3:c.102C>T | NP_733844.1:p.Asn34= | |
| NM_001161504.2:c.-79C>T | NP_001154976.1:n.-79C>T | |
| NM_001319218.2:c.102C>T | NP_001306147.1:p.Asn34= |