Linked Data
ClinVar Variation Id:
68812
dbSNP Id:
rs281875302
gnomAD v3:
9-133424410-G-A
gnomAD v4:
9-133424410-G-A
MyVariant Identifiers:
chr9:g.133424410G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133424410G>A , CM000671.2:g.133424410G>A | GRCh38 |
| NC_000009.10:g.135279351G>A | NCBI36 |
| NG_011934.2:g.15072G>A , LRG_544:g.15072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.262G>A MANE Select | ENSP00000347927.2:p.Val88Met | |
| ENST00000355699.6:c.262G>A | ENSP00000347927.2:p.Val88Met | |
| ENST00000356589.6:c.262G>A | ENSP00000348997.2:p.Val88Met | |
| ENST00000371911.7:c.262G>A | ENSP00000360979.3:p.Val88Met | |
| ENST00000371916.5:c.-483G>A | ENSP00000360984.2:n.-483G>A | |
| ENST00000371929.7:c.262G>A | ENSP00000360997.3:p.Val88Met | |
| ENST00000474918.1:c.262G>A | ENSP00000435305.1:p.Val88Met | |
| ENST00000485925.5:n.444G>A | ||
| ENST00000495234.5:c.262G>A | ENSP00000435274.1:p.Val88Met | |
| NM_139025.4:c.262G>A , LRG_544t1:c.262G>A | NP_620594.1:p.Val88Met | |
| NM_139026.4:c.262G>A | NP_620595.1:p.Val88Met | |
| NM_139027.4:c.262G>A | NP_620596.2:p.Val88Met | |
| NR_024514.2:n.463G>A | ||
| XM_011518174.1:c.-129G>A | XP_011516476.1:n.-129G>A | |
| XM_011518175.1:c.262G>A | XP_011516477.1:p.Val88Met | |
| XM_011518180.1:c.262G>A | XP_011516482.1:p.Val88Met | |
| XM_017014232.1:c.250G>A | XP_016869721.1:p.Val84Met | |
| XM_017014233.1:c.-129G>A | XP_016869722.1:n.-129G>A | |
| XM_017014235.1:c.262G>A | XP_016869724.1:p.Val88Met | |
| XR_001746171.1:n.1487G>A | ||
| NM_139026.5:c.262G>A | NP_620595.1:p.Val88Met | |
| NM_139027.5:c.262G>A | NP_620596.2:p.Val88Met | |
| NM_139025.5:c.262G>A | NP_620594.1:p.Val88Met | |
| NM_139026.6:c.262G>A | NP_620595.1:p.Val88Met | |
| NM_139027.6:c.262G>A MANE Select | NP_620596.2:p.Val88Met | |
| NR_024514.3:n.465G>A |