Linked Data
dbSNP Id:
rs1554789230
gnomAD v4:
9-133436921-C-A
MyVariant Identifiers:
chr9:g.133436921C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436921C>A , CM000671.2:g.133436921C>A | GRCh38 |
| NC_000009.10:g.135291862C>A | NCBI36 |
| NG_011934.2:g.27583C>A , LRG_544:g.27583C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1401C>A MANE Select | ENSP00000347927.2:p.Phe467Leu | |
| ENST00000355699.6:c.1401C>A | ENSP00000347927.2:p.Phe467Leu | |
| ENST00000356589.6:c.1308C>A | ENSP00000348997.2:p.Phe436Leu | |
| ENST00000371916.5:c.657C>A | ENSP00000360984.2:p.Phe219Leu | |
| ENST00000371929.7:c.1401C>A | ENSP00000360997.3:p.Phe467Leu | |
| ENST00000474918.1:c.*205C>A | ENSP00000435305.1:n.*205C>A | |
| ENST00000485925.5:n.974-2445C>A | ||
| ENST00000495234.5:c.*685C>A | ENSP00000435274.1:n.*685C>A | |
| NM_139025.4:c.1401C>A , LRG_544t1:c.1401C>A | NP_620594.1:p.Phe467Leu | |
| NM_139026.4:c.1308C>A | NP_620595.1:p.Phe436Leu | |
| NM_139027.4:c.1401C>A | NP_620596.2:p.Phe467Leu | |
| NR_024514.2:n.993-2445C>A | ||
| XM_011518174.1:c.1011C>A | XP_011516476.1:p.Phe337Leu | |
| XM_011518175.1:c.1401C>A | XP_011516477.1:p.Phe467Leu | |
| XM_011518176.1:c.417C>A | XP_011516478.1:p.Phe139Leu | |
| XM_011518177.1:c.411C>A | XP_011516479.1:p.Phe137Leu | |
| XM_011518178.1:c.66C>A | XP_011516480.1:p.Phe22Leu | |
| XM_011518179.1:c.187C>A | XP_011516481.1:p.Leu63Ile | |
| XM_011518180.1:c.687-7942C>A | XP_011516482.1:n.687-7942C>A | |
| XM_011518176.3:c.417C>A | XP_011516478.1:p.Phe139Leu | |
| XM_011518178.2:c.66C>A | XP_011516480.1:p.Phe22Leu | |
| XM_017014232.1:c.1389C>A | XP_016869721.1:p.Phe463Leu | |
| XM_017014233.1:c.1011C>A | XP_016869722.1:p.Phe337Leu | |
| XM_017014234.2:c.411C>A | XP_016869723.1:p.Phe137Leu | |
| XM_017014235.1:c.1401C>A | XP_016869724.1:p.Phe467Leu | |
| XR_001746171.1:n.2626C>A | ||
| NM_139026.5:c.1308C>A | NP_620595.1:p.Phe436Leu | |
| NM_139027.5:c.1401C>A | NP_620596.2:p.Phe467Leu | |
| NM_139025.5:c.1401C>A | NP_620594.1:p.Phe467Leu | |
| NM_139026.6:c.1308C>A | NP_620595.1:p.Phe436Leu | |
| NM_139027.6:c.1401C>A MANE Select | NP_620596.2:p.Phe467Leu | |
| NR_024514.3:n.995-2445C>A |