gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00879308 (AFR)
Genomes Max Group AF
0.00828903 (AFR)
Exomes Max Group AF
0.00889768 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32862543G>A , CM000681.2:g.32862543G>A | GRCh38 |
| NC_000019.9:g.33353449G>A , CM000681.1:g.33353449G>A | GRCh37 |
| NC_000019.8:g.38045289G>A | NCBI36 |
| NG_008258.1:g.12235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.522C>T MANE Select | ENSP00000023064.3:p.Ser174= | |
| ENST00000023064.8:c.522C>T | ENSP00000023064.3:p.Ser174= | |
| ENST00000587772.1:c.522C>T | ENSP00000468439.1:p.Ser174= | |
| ENST00000589659.1:n.467C>T | ||
| ENST00000590341.5:c.522C>T | ENSP00000464822.1:p.Ser174= | |
| ENST00000590465.5:c.*210+1553C>T | ENSP00000468076.1:n.*210+1553C>T | |
| ENST00000592232.5:c.*210+1553C>T | ENSP00000465563.1:n.*210+1553C>T | |
| NM_001126335.1:c.522C>T | NP_001119807.1:p.Ser174= | |
| NM_001243036.1:c.522C>T | NP_001229965.1:p.Ser174= | |
| NM_014270.4:c.522C>T | NP_055085.1:p.Ser174= | |
| XM_006722992.1:c.23+1553C>T | XP_006723055.1:n.23+1553C>T | |
| XM_011526402.1:c.522C>T | XP_011524704.1:p.Ser174= | |
| XM_011526402.3:c.522C>T | XP_011524704.1:p.Ser174= | |
| XM_017026230.1:c.258C>T | XP_016881719.1:p.Ser86= | |
| XM_024451334.1:c.-565+1553C>T | XP_024307102.1:n.-565+1553C>T | |
| NM_014270.5:c.522C>T MANE Select | NP_055085.1:p.Ser174= | |
| NM_001126335.2:c.522C>T | NP_001119807.1:p.Ser174= | |
| NM_001243036.2:c.522C>T | NP_001229965.1:p.Ser174= |