MyVariant.info:
GRCh38
chr9:g.133425943T>C
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5120834 (AFR)
Genomes Max Group AF
0.50781299 (AFR)
Exomes Max Group AF
0.51339893 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133425943T>C , CM000671.2:g.133425943T>C | GRCh38 |
| NG_011934.2:g.16605T>C , LRG_544:g.16605T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.420T>C MANE Select | ENSP00000347927.2:p.Ala140= | |
| ENST00000355699.6:c.420T>C | ENSP00000347927.2:p.Ala140= | |
| ENST00000356589.6:c.420T>C | ENSP00000348997.2:p.Ala140= | |
| ENST00000371911.7:c.420T>C | ENSP00000360979.3:p.Ala140= | |
| ENST00000371916.5:c.-325T>C | ENSP00000360984.2:n.-325T>C | |
| ENST00000371929.7:c.420T>C | ENSP00000360997.3:p.Ala140= | |
| ENST00000474918.1:c.420T>C | ENSP00000435305.1:p.Ala140= | |
| ENST00000485925.5:n.602T>C | ||
| ENST00000495234.5:c.420T>C | ENSP00000435274.1:p.Ala140= | |
| NM_139025.4:c.420T>C , LRG_544t1:c.420T>C | NP_620594.1:p.Ala140= | |
| NM_139026.4:c.420T>C | NP_620595.1:p.Ala140= | |
| NM_139027.4:c.420T>C | NP_620596.2:p.Ala140= | |
| NR_024514.2:n.621T>C | ||
| XM_011518174.1:c.30T>C | XP_011516476.1:p.Ala10= | |
| XM_011518175.1:c.420T>C | XP_011516477.1:p.Ala140= | |
| XM_011518180.1:c.420T>C | XP_011516482.1:p.Ala140= | |
| XM_017014232.1:c.408T>C | XP_016869721.1:p.Ala136= | |
| XM_017014233.1:c.30T>C | XP_016869722.1:p.Ala10= | |
| XM_017014234.2:c.-150-256T>C | XP_016869723.1:n.-150-256T>C | |
| XM_017014235.1:c.420T>C | XP_016869724.1:p.Ala140= | |
| XR_001746171.1:n.1645T>C | ||
| NM_139026.5:c.420T>C | NP_620595.1:p.Ala140= | |
| NM_139027.5:c.420T>C | NP_620596.2:p.Ala140= | |
| NM_139025.5:c.420T>C | NP_620594.1:p.Ala140= | |
| NM_139026.6:c.420T>C | NP_620595.1:p.Ala140= | |
| NM_139027.6:c.420T>C MANE Select | NP_620596.2:p.Ala140= | |
| NR_024514.3:n.623T>C |