gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00031317 (EAS)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00033374 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68049976C>T , CM000673.2:g.68049976C>T | GRCh38 |
| NC_000011.9:g.67817443C>T , CM000673.1:g.67817443C>T | GRCh37 |
| NC_000011.8:g.67574019C>T | NCBI36 |
| NG_007878.1:g.15961C>T , LRG_115:g.15961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.1021C>T | ||
| ENST00000698254.1:c.1557C>T | ENSP00000513629.1:p.Ala519= | |
| ENST00000698255.1:c.1977C>T | ENSP00000513630.1:p.Ala659= | |
| ENST00000698256.1:c.1494C>T | ||
| ENST00000698257.1:n.1446C>T | ||
| ENST00000698258.1:n.1163C>T | ||
| ENST00000698259.1:n.1297C>T | ||
| ENST00000265686.8:c.2028C>T MANE Select | ENSP00000265686.3:p.Ala676= | |
| ENST00000265686.7:c.2028C>T | ENSP00000265686.3:p.Ala676= | |
| ENST00000524870.1:n.656C>T | ||
| ENST00000525724.5:n.1340C>T | ||
| ENST00000532635.5:c.1380C>T | ENSP00000434407.1:p.Ala460= | |
| ENST00000533005.5:n.1141C>T | ||
| NM_006019.3:c.2028C>T | NP_006010.2:p.Ala676= | |
| NM_006053.3:c.1380C>T | NP_006044.1:p.Ala460= | |
| XM_005273709.2:c.2028C>T | XP_005273766.1:p.Ala676= | |
| XM_011544726.1:c.2028C>T | XP_011543028.1:p.Ala676= | |
| XM_011544727.1:c.2028C>T | XP_011543029.1:p.Ala676= | |
| XR_949754.1:n.2175C>T | ||
| NM_001351059.1:c.1134C>T | NP_001337988.1:p.Ala378= | |
| XM_024448320.1:c.2121C>T | XP_024304088.1:p.Ala707= | |
| XM_024448321.1:c.2121C>T | XP_024304089.1:p.Ala707= | |
| XM_024448322.1:c.2121C>T | XP_024304090.1:p.Ala707= | |
| XM_024448323.1:c.2121C>T | XP_024304091.1:p.Ala707= | |
| XR_001747721.2:n.2197C>T | ||
| XR_001747722.1:n.2165C>T | ||
| XR_001747723.2:n.2210C>T | ||
| XR_002957115.1:n.2386C>T | ||
| NM_006019.4:c.2028C>T MANE Select | NP_006010.2:p.Ala676= | |
| NM_001351059.2:c.1134C>T | NP_001337988.1:p.Ala378= | |
| NM_006053.4:c.1380C>T | NP_006044.1:p.Ala460= |