Linked Data
ClinVar Variation Id:
857737
ClinVar RCV Id:
RCV001271732
dbSNP Id:
rs377221825
ExAC:
9:133355794 A / G
gnomAD v2:
9-133355794-A-G
gnomAD v3:
9-130480407-A-G
gnomAD v4:
9-130480407-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480407A>G , CM000671.2:g.130480407A>G | GRCh38 |
| NC_000009.11:g.133355794A>G , CM000671.1:g.133355794A>G | GRCh37 |
| NC_000009.10:g.132345615A>G | NCBI36 |
| NG_011542.1:g.40701A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.796A>G MANE Select | ENSP00000253004.6:p.Ile266Val | |
| ENST00000352480.9:c.796A>G | ENSP00000253004.6:p.Ile266Val | |
| ENST00000372386.6:n.67A>G | ||
| ENST00000372393.7:c.796A>G | ENSP00000361469.2:p.Ile266Val | |
| ENST00000372394.5:c.796A>G | ENSP00000361471.1:p.Ile266Val | |
| ENST00000470849.4:n.521A>G | ||
| ENST00000492400.5:n.305A>G | ||
| ENST00000493984.6:n.573A>G | ||
| NM_000050.4:c.796A>G | NP_000041.2:p.Ile266Val | |
| NM_054012.3:c.796A>G | NP_446464.1:p.Ile266Val | |
| XM_005272200.2:c.796A>G | XP_005272257.1:p.Ile266Val | |
| XM_011518705.1:c.910A>G | XP_011517007.1:p.Ile304Val | |
| XM_005272200.3:c.796A>G | XP_005272257.1:p.Ile266Val | |
| XM_011518705.2:c.910A>G | XP_011517007.1:p.Ile304Val | |
| XM_017014729.1:c.892A>G | XP_016870218.1:p.Ile298Val | |
| NM_054012.4:c.796A>G MANE Select | NP_446464.1:p.Ile266Val |