ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001748 (AFR)
Genomes Max Group AF
0.00001922 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103321132C>G , CM000673.2:g.103321132C>G | GRCh38 |
| NC_000011.9:g.103191861C>G , CM000673.1:g.103191861C>G | GRCh37 |
| NC_000011.8:g.102697071C>G | NCBI36 |
| NG_016423.1:g.216702C>G | |
| NG_016423.2:g.216702C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.11850C>G MANE Plus Clinical | ENSP00000497174.1:p.Tyr3950Ter | |
| ENST00000375735.7:c.11829C>G MANE Select | ENSP00000364887.2:p.Tyr3943Ter | |
| ENST00000650373.1:c.11850C>G | ENSP00000497174.1:p.Tyr3950Ter | |
| ENST00000334267.11:c.2206-114811C>G | ENSP00000334021.7:n.2206-114811C>G | |
| ENST00000375735.6:c.11829C>G | ENSP00000364887.2:p.Tyr3943Ter | |
| ENST00000398093.7:c.11850C>G | ENSP00000381167.3:p.Tyr3950Ter | |
| ENST00000528670.5:c.1008C>G | ENSP00000433451.1:p.Tyr336Ter | |
| NM_001080463.1:c.11850C>G | NP_001073932.1:p.Tyr3950Ter | |
| NM_001377.2:c.11829C>G | NP_001368.2:p.Tyr3943Ter | |
| XM_006718903.2:c.11808C>G | XP_006718966.1:p.Tyr3936Ter | |
| XM_017018291.1:c.11829C>G | XP_016873780.1:p.Tyr3943Ter | |
| XM_017018292.1:c.11211C>G | XP_016873781.1:p.Tyr3737Ter | |
| NM_001377.3:c.11829C>G MANE Select | NP_001368.2:p.Tyr3943Ter | |
| NM_001080463.2:c.11850C>G MANE Plus Clinical | NP_001073932.1:p.Tyr3950Ter |