gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003589 (SAS)
Exomes Max Group AF
0.00002996 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63930868C>T , CM000682.2:g.63930868C>T | GRCh38 |
| NC_000020.10:g.62562221C>T , CM000682.1:g.62562221C>T | GRCh37 |
| NC_000020.9:g.62032665C>T | NCBI36 |
| NG_029805.1:g.40767C>T | |
| NG_029805.2:g.40767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703637.1:c.339C>T | ENSP00000515413.1:p.Cys113= | |
| ENST00000360864.9:c.339C>T MANE Select | ENSP00000354111.4:p.Cys113= | |
| ENST00000360864.8:c.339C>T | ENSP00000354111.4:p.Cys113= | |
| ENST00000470551.1:c.339C>T | ENSP00000434744.1:p.Cys113= | |
| NM_025219.2:c.339C>T | NP_079495.1:p.Cys113= | |
| XM_011529048.1:c.339C>T | XP_011527350.1:p.Cys113= | |
| XM_011529049.1:c.339C>T | XP_011527351.1:p.Cys113= | |
| XM_011529050.1:c.339C>T | XP_011527352.1:p.Cys113= | |
| XR_936629.1:n.971C>T | ||
| XR_936630.1:n.1229C>T | ||
| XM_011529048.2:c.339C>T | XP_011527350.1:p.Cys113= | |
| XR_936629.2:n.984C>T | ||
| NM_025219.3:c.339C>T MANE Select | NP_079495.1:p.Cys113= |