gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002555 (NFE)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00002625 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42931141C>T , CM000663.2:g.42931141C>T | GRCh38 |
| NC_000001.10:g.43396812C>T , CM000663.1:g.43396812C>T | GRCh37 |
| NC_000001.9:g.43169399C>T | NCBI36 |
| NG_008232.1:g.33036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.180G>A MANE Select | ENSP00000416293.2:p.Thr60= | |
| ENST00000674765.1:c.180G>A | ENSP00000501811.1:p.Thr60= | |
| ENST00000675112.1:n.203G>A | ||
| ENST00000676254.1:n.629G>A | ||
| ENST00000372500.4:c.84G>A | ENSP00000361578.4:p.Thr28= | |
| ENST00000415851.6:n.397G>A | ||
| ENST00000426263.7:c.180G>A | ENSP00000416293.2:p.Thr60= | |
| ENST00000475162.3:c.79G>A | ||
| ENST00000625233.2:n.388G>A | ||
| ENST00000630287.2:c.180G>A | ENSP00000486694.1:p.Thr60= | |
| NM_006516.2:c.180G>A | NP_006507.2:p.Thr60= | |
| NM_006516.3:c.180G>A | NP_006507.2:p.Thr60= | |
| NM_006516.4:c.180G>A MANE Select | NP_006507.2:p.Thr60= |