MyVariant.info:
GRCh38
chr9:g.133424452C>T
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.0000192 (AFR)
Exomes Max Group AF
0.00000575 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133424452C>T , CM000671.2:g.133424452C>T | GRCh38 |
| NC_000009.10:g.135279393C>T | NCBI36 |
| NG_011934.2:g.15114C>T , LRG_544:g.15114C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.304C>T MANE Select | ENSP00000347927.2:p.Arg102Cys | |
| ENST00000355699.6:c.304C>T | ENSP00000347927.2:p.Arg102Cys | |
| ENST00000356589.6:c.304C>T | ENSP00000348997.2:p.Arg102Cys | |
| ENST00000371911.7:c.304C>T | ENSP00000360979.3:p.Arg102Cys | |
| ENST00000371916.5:c.-441C>T | ENSP00000360984.2:n.-441C>T | |
| ENST00000371929.7:c.304C>T | ENSP00000360997.3:p.Arg102Cys | |
| ENST00000474918.1:c.304C>T | ENSP00000435305.1:p.Arg102Cys | |
| ENST00000485925.5:n.486C>T | ||
| ENST00000495234.5:c.304C>T | ENSP00000435274.1:p.Arg102Cys | |
| NM_139025.4:c.304C>T , LRG_544t1:c.304C>T | NP_620594.1:p.Arg102Cys | |
| NM_139026.4:c.304C>T | NP_620595.1:p.Arg102Cys | |
| NM_139027.4:c.304C>T | NP_620596.2:p.Arg102Cys | |
| NR_024514.2:n.505C>T | ||
| XM_011518174.1:c.-87C>T | XP_011516476.1:n.-87C>T | |
| XM_011518175.1:c.304C>T | XP_011516477.1:p.Arg102Cys | |
| XM_011518180.1:c.304C>T | XP_011516482.1:p.Arg102Cys | |
| XM_017014232.1:c.292C>T | XP_016869721.1:p.Arg98Cys | |
| XM_017014233.1:c.-87C>T | XP_016869722.1:n.-87C>T | |
| XM_017014235.1:c.304C>T | XP_016869724.1:p.Arg102Cys | |
| XR_001746171.1:n.1529C>T | ||
| NM_139026.5:c.304C>T | NP_620595.1:p.Arg102Cys | |
| NM_139027.5:c.304C>T | NP_620596.2:p.Arg102Cys | |
| NM_139025.5:c.304C>T | NP_620594.1:p.Arg102Cys | |
| NM_139026.6:c.304C>T | NP_620595.1:p.Arg102Cys | |
| NM_139027.6:c.304C>T MANE Select | NP_620596.2:p.Arg102Cys | |
| NR_024514.3:n.507C>T |