gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00526857 (MID)
Genomes Max Group AF
0.00227432 (NFE)
Exomes Max Group AF
0.005235 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123754482C>T , CM000674.2:g.123754482C>T | GRCh38 |
| NC_000012.11:g.124239029C>T , CM000674.1:g.124239029C>T | GRCh37 |
| NC_000012.10:g.122804982C>T | NCBI36 |
| NG_012743.1:g.47165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.2238C>T MANE Select | ENSP00000332247.2:p.Cys746= | |
| ENST00000540368.6:n.2269C>T | ||
| ENST00000674794.1:c.2326C>T | ||
| ENST00000675344.1:c.*1259C>T | ENSP00000501953.1:n.*1259C>T | |
| ENST00000330342.7:c.2238C>T | ENSP00000332247.2:p.Cys746= | |
| ENST00000534943.5:c.78C>T | ENSP00000443726.1:p.Cys26= | |
| ENST00000544833.1:c.84C>T | ENSP00000441143.1:p.Cys28= | |
| NM_012463.3:c.2238C>T | NP_036595.2:p.Cys746= | |
| XM_005253563.1:c.2118C>T | XP_005253620.1:p.Cys706= | |
| XM_006719317.2:c.1725C>T | XP_006719380.1:p.Cys575= | |
| XM_006719318.2:c.1416C>T | XP_006719381.1:p.Cys472= | |
| XR_429088.1:n.2401C>T | ||
| XM_024448910.1:c.2118C>T | XP_024304678.1:p.Cys706= | |
| XM_024448911.1:c.1725C>T | XP_024304679.1:p.Cys575= | |
| XM_024448912.1:c.1416C>T | XP_024304680.1:p.Cys472= | |
| NM_012463.4:c.2238C>T MANE Select | NP_036595.2:p.Cys746= |