Linked Data
dbSNP Id:
rs1554795164
gnomAD v4:
9-133454542-C-G
MyVariant Identifiers:
chr9:g.133454542C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454542C>G , CM000671.2:g.133454542C>G | GRCh38 |
| NC_000009.10:g.135309485C>G | NCBI36 |
| NG_011934.2:g.45204C>G , LRG_544:g.45204C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3172C>G MANE Select | ENSP00000347927.2:p.Leu1058Val | |
| ENST00000355699.6:c.3172C>G | ENSP00000347927.2:p.Leu1058Val | |
| ENST00000356589.6:c.3079C>G | ENSP00000348997.2:p.Leu1027Val | |
| ENST00000371916.5:c.*641C>G | ENSP00000360984.2:n.*641C>G | |
| ENST00000371929.7:c.3172C>G | ENSP00000360997.3:p.Leu1058Val | |
| ENST00000485925.5:n.1988C>G | ||
| NM_139025.4:c.3172C>G , LRG_544t1:c.3172C>G | NP_620594.1:p.Leu1058Val | |
| NM_139026.4:c.3079C>G | NP_620595.1:p.Leu1027Val | |
| NM_139027.4:c.3172C>G | NP_620596.2:p.Leu1058Val | |
| NR_024514.2:n.2007C>G | ||
| XM_011518174.1:c.2782C>G | XP_011516476.1:p.Leu928Val | |
| XM_011518175.1:c.3172C>G | XP_011516477.1:p.Leu1058Val | |
| XM_011518176.1:c.2188C>G | XP_011516478.1:p.Leu730Val | |
| XM_011518177.1:c.2182C>G | XP_011516479.1:p.Leu728Val | |
| XM_011518178.1:c.1837C>G | XP_011516480.1:p.Leu613Val | |
| XM_011518179.1:c.1837C>G | XP_011516481.1:p.Leu613Val | |
| XM_011518180.1:c.1438C>G | XP_011516482.1:p.Leu480Val | |
| XM_011518176.3:c.2188C>G | XP_011516478.1:p.Leu730Val | |
| XM_011518178.2:c.1837C>G | XP_011516480.1:p.Leu613Val | |
| XM_017014232.1:c.3160C>G | XP_016869721.1:p.Leu1054Val | |
| XM_017014233.1:c.2782C>G | XP_016869722.1:p.Leu928Val | |
| XM_017014234.2:c.2182C>G | XP_016869723.1:p.Leu728Val | |
| NM_139026.5:c.3079C>G | NP_620595.1:p.Leu1027Val | |
| NM_139027.5:c.3172C>G | NP_620596.2:p.Leu1058Val | |
| NM_139025.5:c.3172C>G | NP_620594.1:p.Leu1058Val | |
| NM_139026.6:c.3079C>G | NP_620595.1:p.Leu1027Val | |
| NM_139027.6:c.3172C>G MANE Select | NP_620596.2:p.Leu1058Val | |
| NR_024514.3:n.2009C>G |