ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29156119 (AMR)
Genomes Max Group AF
0.27704302 (AFR)
Exomes Max Group AF
0.30806055 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101666988C>T , CM000670.2:g.101666988C>T | GRCh38 |
| NC_000008.10:g.102679216C>T , CM000670.1:g.102679216C>T | GRCh37 |
| NC_000008.9:g.102748392C>T | NCBI36 |
| NG_011971.1:g.179549C>T | |
| NG_011971.2:g.179549C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646743.1:c.*285C>T MANE Select | ENSP00000495564.1:n.*285C>T | |
| ENST00000251808.7:c.*285C>T | ENSP00000251808.3:n.*285C>T | |
| NM_024915.3:c.*285C>T | NP_079191.2:n.*285C>T | |
| XM_011517305.1:c.*285C>T | XP_011515607.1:n.*285C>T | |
| XM_011517306.1:c.*285C>T | XP_011515608.1:n.*285C>T | |
| XM_011517307.1:c.1763+2470C>T | XP_011515609.1:n.1763+2470C>T | |
| NM_001330593.1:c.*285C>T | NP_001317522.1:n.*285C>T | |
| XM_011517306.3:c.*285C>T | XP_011515608.1:n.*285C>T | |
| XM_011517307.3:c.1763+2470C>T | XP_011515609.1:n.1763+2470C>T | |
| NM_001330593.2:c.*285C>T | NP_001317522.1:n.*285C>T | |
| NM_024915.4:c.*285C>T MANE Select | NP_079191.2:n.*285C>T |