gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00071145 (EAS)
Genomes Max Group AF
0.00097158 (SAS)
Exomes Max Group AF
0.00060813 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80097250C>T , CM000679.2:g.80097250C>T | GRCh38 |
| NC_000017.10:g.78071049C>T , CM000679.1:g.78071049C>T | GRCh37 |
| NC_000017.9:g.75685644C>T | NCBI36 |
| NG_009822.1:g.695C>T , LRG_673:g.695C>T | |
| NG_029761.1:g.65619C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.3027C>T MANE Select | ENSP00000380679.4:p.Thr1009= | |
| ENST00000397545.8:c.3027C>T | ENSP00000380679.4:p.Thr1009= | |
| ENST00000572253.5:n.3278C>T | ||
| ENST00000574799.5:n.2564C>T | ||
| NM_017950.3:c.3027C>T | NP_060420.2:p.Thr1009= | |
| XM_011524963.1:c.2937C>T | XP_011523265.1:p.Thr979= | |
| XM_011524964.1:c.1848C>T | XP_011523266.1:p.Thr616= | |
| XM_011524963.3:c.2937C>T | XP_011523265.1:p.Thr979= | |
| XM_011524964.3:c.1848C>T | XP_011523266.1:p.Thr616= | |
| XM_024450821.1:c.2937C>T | XP_024306589.1:p.Thr979= | |
| XR_934495.2:n.3145C>T | ||
| NM_017950.4:c.3027C>T MANE Select | NP_060420.2:p.Thr1009= |