gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00490149 (NFE)
Genomes Max Group AF
0.00399928 (NFE)
Exomes Max Group AF
0.00493531 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71831906G>A , CM000672.2:g.71831906G>A | GRCh38 |
| NC_000010.10:g.73591663G>A , CM000672.1:g.73591663G>A | GRCh37 |
| NC_000010.9:g.73261669G>A | NCBI36 |
| NG_009301.1:g.24420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.189C>T MANE Select | ENSP00000378394.3:p.Cys63= | |
| ENST00000394934.4:c.189C>T | ENSP00000378392.2:p.Cys63= | |
| ENST00000394936.7:c.189C>T | ENSP00000378394.3:p.Cys63= | |
| ENST00000610929.3:c.189C>T | ENSP00000480857.1:p.Cys63= | |
| NM_001042465.1:c.189C>T | NP_001035930.1:p.Cys63= | |
| NM_001042466.1:c.189C>T | NP_001035931.1:p.Cys63= | |
| NM_002778.2:c.189C>T | NP_002769.1:p.Cys63= | |
| NM_001042465.2:c.189C>T | NP_001035930.1:p.Cys63= | |
| NM_001042466.2:c.189C>T | NP_001035931.1:p.Cys63= | |
| NM_002778.3:c.189C>T | NP_002769.1:p.Cys63= | |
| NM_002778.4:c.189C>T MANE Select | NP_002769.1:p.Cys63= | |
| NM_001042465.3:c.189C>T | NP_001035930.1:p.Cys63= | |
| NM_001042466.3:c.189C>T | NP_001035931.1:p.Cys63= |