gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022777 (SAS)
Genomes Max Group AF
0.00011247 (AFR)
Exomes Max Group AF
0.00027559 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19880628G>A , CM000684.2:g.19880628G>A | GRCh38 |
| NC_000022.10:g.19868151G>A , CM000684.1:g.19868151G>A | GRCh37 |
| NC_000022.9:g.18248151G>A | NCBI36 |
| NG_011835.1:g.66209C>T , LRG_417:g.66209C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.1176C>T MANE Select | ENSP00000383365.1:p.Tyr392= | |
| ENST00000400518.5:c.1086C>T | ENSP00000383362.1:p.Tyr362= | |
| ENST00000400519.6:c.1173C>T | ENSP00000383363.1:p.Tyr391= | |
| ENST00000400521.6:c.1176C>T | ENSP00000383365.1:p.Tyr392= | |
| ENST00000400525.6:c.1107C>T | ENSP00000383369.3:p.Tyr369= | |
| ENST00000462330.5:c.99C>T | ENSP00000485603.2:p.Tyr33= | |
| ENST00000462843.2:c.126C>T | ENSP00000485466.2:p.Tyr42= | |
| ENST00000474308.5:c.1119C>T | ENSP00000485665.1:p.Tyr373= | |
| ENST00000485358.5:c.144C>T | ENSP00000485499.2:p.Tyr48= | |
| ENST00000487165.5:n.1270C>T | ||
| ENST00000494454.5:n.1250C>T | ||
| ENST00000495655.2:n.720C>T | ||
| ENST00000542719.6:c.888C>T | ENSP00000485128.2:p.Tyr296= | |
| ENST00000634471.1:n.244-357C>T | ||
| ENST00000634537.1:c.405C>T | ENSP00000489208.1:p.Tyr135= | |
| NM_006440.4:c.1176C>T | NP_006431.2:p.Tyr392= | |
| NM_001352300.1:c.1173C>T | NP_001339229.1:p.Tyr391= | |
| NM_001352301.1:c.1086C>T | NP_001339230.1:p.Tyr362= | |
| NM_001352302.1:c.888C>T | NP_001339231.1:p.Tyr296= | |
| NR_147957.1:n.1308C>T | ||
| NM_006440.5:c.1176C>T MANE Select | NP_006431.2:p.Tyr392= | |
| NM_001352300.2:c.1173C>T | NP_001339229.1:p.Tyr391= | |
| NR_147957.2:n.1134C>T | ||
| NM_001352301.2:c.1086C>T | NP_001339230.1:p.Tyr362= | |
| NM_001352302.2:c.888C>T | NP_001339231.1:p.Tyr296= |