Linked Data
dbSNP Id:
rs2130937285
gnomAD v4:
9-133454545-G-T
MyVariant Identifiers:
chr9:g.133454545G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454545G>T , CM000671.2:g.133454545G>T | GRCh38 |
| NC_000009.10:g.135309488G>T | NCBI36 |
| NG_011934.2:g.45207G>T , LRG_544:g.45207G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3175G>T MANE Select | ENSP00000347927.2:p.Val1059Leu | |
| ENST00000355699.6:c.3175G>T | ENSP00000347927.2:p.Val1059Leu | |
| ENST00000356589.6:c.3082G>T | ENSP00000348997.2:p.Val1028Leu | |
| ENST00000371916.5:c.*644G>T | ENSP00000360984.2:n.*644G>T | |
| ENST00000371929.7:c.3175G>T | ENSP00000360997.3:p.Val1059Leu | |
| ENST00000485925.5:n.1991G>T | ||
| NM_139025.4:c.3175G>T , LRG_544t1:c.3175G>T | NP_620594.1:p.Val1059Leu | |
| NM_139026.4:c.3082G>T | NP_620595.1:p.Val1028Leu | |
| NM_139027.4:c.3175G>T | NP_620596.2:p.Val1059Leu | |
| NR_024514.2:n.2010G>T | ||
| XM_011518174.1:c.2785G>T | XP_011516476.1:p.Val929Leu | |
| XM_011518175.1:c.3175G>T | XP_011516477.1:p.Val1059Leu | |
| XM_011518176.1:c.2191G>T | XP_011516478.1:p.Val731Leu | |
| XM_011518177.1:c.2185G>T | XP_011516479.1:p.Val729Leu | |
| XM_011518178.1:c.1840G>T | XP_011516480.1:p.Val614Leu | |
| XM_011518179.1:c.1840G>T | XP_011516481.1:p.Val614Leu | |
| XM_011518180.1:c.1441G>T | XP_011516482.1:p.Val481Leu | |
| XM_011518176.3:c.2191G>T | XP_011516478.1:p.Val731Leu | |
| XM_011518178.2:c.1840G>T | XP_011516480.1:p.Val614Leu | |
| XM_017014232.1:c.3163G>T | XP_016869721.1:p.Val1055Leu | |
| XM_017014233.1:c.2785G>T | XP_016869722.1:p.Val929Leu | |
| XM_017014234.2:c.2185G>T | XP_016869723.1:p.Val729Leu | |
| NM_139026.5:c.3082G>T | NP_620595.1:p.Val1028Leu | |
| NM_139027.5:c.3175G>T | NP_620596.2:p.Val1059Leu | |
| NM_139025.5:c.3175G>T | NP_620594.1:p.Val1059Leu | |
| NM_139026.6:c.3082G>T | NP_620595.1:p.Val1028Leu | |
| NM_139027.6:c.3175G>T MANE Select | NP_620596.2:p.Val1059Leu | |
| NR_024514.3:n.2012G>T |