gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011811 (NFE)
Genomes Max Group AF
0.00009046 (NFE)
Exomes Max Group AF
0.00011629 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391794C>T , CM000673.2:g.6391794C>T | GRCh38 |
| NC_000011.9:g.6413024C>T , CM000673.1:g.6413024C>T | GRCh37 |
| NC_000011.8:g.6369600C>T | NCBI36 |
| NG_011780.1:g.6370C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.729C>T MANE Select | ENSP00000340409.4:p.Ala243= | |
| ENST00000342245.8:c.729C>T | ENSP00000340409.4:p.Ala243= | |
| ENST00000527275.5:c.726C>T | ENSP00000435350.1:p.Ala242= | |
| ENST00000530395.1:c.-91C>T | ENSP00000431479.1:n.-91C>T | |
| ENST00000531303.5:c.438+291C>T | ENSP00000432625.1:n.438+291C>T | |
| ENST00000533123.5:c.729C>T | ENSP00000435950.1:p.Ala243= | |
| ENST00000533196.1:n.375-212C>T | ||
| ENST00000534405.5:c.729C>T | ENSP00000434353.1:p.Ala243= | |
| NM_000543.4:c.729C>T | NP_000534.3:p.Ala243= | |
| NM_001007593.2:c.726C>T | NP_001007594.2:p.Ala242= | |
| XM_005253075.3:c.729C>T | XP_005253132.1:p.Ala243= | |
| XM_011520303.1:c.729C>T | XP_011518605.1:p.Ala243= | |
| XM_011520304.1:c.729C>T | XP_011518606.1:p.Ala243= | |
| XR_930886.1:n.1027C>T | ||
| NM_001318087.1:c.729C>T | NP_001305016.1:p.Ala243= | |
| NM_001318088.1:c.-233C>T | NP_001305017.1:n.-233C>T | |
| NM_001365135.1:c.729C>T | NP_001352064.1:p.Ala243= | |
| NR_027400.2:n.914C>T | ||
| NR_134502.1:n.623+291C>T | ||
| XM_011520304.2:c.729C>T | XP_011518606.1:p.Ala243= | |
| XR_001747940.2:n.854C>T | ||
| XR_002957158.1:n.854C>T | ||
| NM_000543.5:c.729C>T MANE Select | NP_000534.3:p.Ala243= | |
| NM_001007593.3:c.726C>T | NP_001007594.2:p.Ala242= | |
| NM_001318087.2:c.729C>T | NP_001305016.1:p.Ala243= | |
| NM_001318088.2:c.-233C>T | NP_001305017.1:n.-233C>T | |
| NM_001365135.2:c.729C>T | NP_001352064.1:p.Ala243= | |
| NR_027400.3:n.854C>T | ||
| NR_134502.2:n.563+291C>T |