gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00045916 (AMR)
Genomes Max Group AF
0.0006558 (AMR)
Exomes Max Group AF
0.00031415 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73621864A>C , CM000668.2:g.73621864A>C | GRCh38 |
| NC_000006.11:g.74331587A>C , CM000668.1:g.74331587A>C | GRCh37 |
| NC_000006.10:g.74388308A>C | NCBI36 |
| NG_008272.1:g.37151T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.918T>G MANE Select | ENSP00000348019.5:p.Tyr306Ter | |
| ENST00000355773.5:c.918T>G | ENSP00000348019.5:p.Tyr306Ter | |
| NM_012434.4:c.918T>G | NP_036566.1:p.Tyr306Ter | |
| XM_005248710.2:c.867T>G | XP_005248767.1:p.Tyr289Ter | |
| XM_005248711.1:c.720T>G | XP_005248768.1:p.Tyr240Ter | |
| XM_011535750.1:c.918T>G | XP_011534052.1:p.Tyr306Ter | |
| NM_012434.5:c.918T>G MANE Select | NP_036566.1:p.Tyr306Ter | |
| NM_001382629.1:c.687T>G | NP_001369558.1:p.Tyr229Ter | |
| NM_001382630.1:c.918T>G | NP_001369559.1:p.Tyr306Ter | |
| NM_001382631.1:c.939T>G | NP_001369560.1:p.Tyr313Ter | |
| NM_001382632.1:c.831T>G | NP_001369561.1:p.Tyr277Ter | |
| NM_001382633.1:c.918T>G | NP_001369562.1:p.Tyr306Ter | |
| NM_001382634.1:c.820-6417T>G | NP_001369563.1:n.820-6417T>G | |
| NM_001382635.1:c.915T>G | NP_001369564.1:p.Tyr305Ter | |
| NM_001382636.1:c.600T>G | NP_001369565.1:p.Tyr200Ter |