ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005937 (SAS)
Exomes Max Group AF
0.00006246 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66511061C>T , CM000673.2:g.66511061C>T | GRCh38 |
| NC_000011.9:g.66278532C>T , CM000673.1:g.66278532C>T | GRCh37 |
| NC_000011.8:g.66035108C>T | NCBI36 |
| NG_009093.1:g.5414C>T | |
| NG_032068.1:g.35653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.96C>T MANE Select | ENSP00000317469.7:p.Ala32= | |
| ENST00000318312.11:c.96C>T | ENSP00000317469.7:p.Ala32= | |
| ENST00000393994.4:c.96C>T | ENSP00000377563.2:p.Ala32= | |
| ENST00000419755.3:c.207C>T | ENSP00000398526.3:p.Ala69= | |
| ENST00000455748.6:c.96C>T | ENSP00000405764.2:p.Ala32= | |
| ENST00000524458.5:c.6C>T | ENSP00000436195.1:p.Ala2= | |
| ENST00000524705.2:c.-84C>T | ENSP00000436927.1:n.-84C>T | |
| ENST00000524907.5:n.86C>T | ||
| ENST00000525809.5:c.96C>T | ENSP00000431187.1:p.Ala32= | |
| ENST00000526035.5:c.96C>T | ENSP00000434197.1:p.Ala32= | |
| ENST00000526760.5:c.96C>T | ENSP00000432140.1:p.Ala32= | |
| ENST00000526815.5:c.6C>T | ENSP00000436860.1:p.Ala2= | |
| ENST00000527251.5:c.6C>T | ENSP00000434360.1:p.Ala2= | |
| ENST00000529766.5:n.103C>T | ||
| ENST00000529955.5:n.114C>T | ||
| ENST00000532908.5:c.96C>T | ENSP00000431866.1:p.Ala32= | |
| ENST00000533557.5:c.96C>T | ENSP00000434619.1:p.Ala32= | |
| ENST00000533644.5:c.96C>T | ENSP00000436073.1:p.Ala32= | |
| ENST00000534730.5:n.108C>T | ||
| ENST00000630659.2:c.96C>T | ENSP00000486455.1:p.Ala32= | |
| NM_024649.4:c.96C>T | NP_078925.3:p.Ala32= | |
| NM_024649.5:c.96C>T MANE Select | NP_078925.3:p.Ala32= |