Linked Data
ClinVar Variation Id:
1142178
ClinVar RCV Id:
RCV001479850
dbSNP Id:
rs2118864084
MyVariant Identifiers:
chr9:g.133364748C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489361C>T , CM000671.2:g.130489361C>T | GRCh38 |
| NC_000009.11:g.133364748C>T , CM000671.1:g.133364748C>T | GRCh37 |
| NC_000009.10:g.132354569C>T | NCBI36 |
| NG_011542.1:g.49655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.867C>T MANE Select | ENSP00000253004.6:p.Ile289= | |
| ENST00000352480.9:c.867C>T | ENSP00000253004.6:p.Ile289= | |
| ENST00000372386.6:n.138C>T | ||
| ENST00000372393.7:c.867C>T | ENSP00000361469.2:p.Ile289= | |
| ENST00000372394.5:c.867C>T | ENSP00000361471.1:p.Ile289= | |
| ENST00000470849.4:n.592C>T | ||
| ENST00000492400.5:n.376C>T | ||
| ENST00000493984.6:n.644C>T | ||
| NM_000050.4:c.867C>T | NP_000041.2:p.Ile289= | |
| NM_054012.3:c.867C>T | NP_446464.1:p.Ile289= | |
| XM_005272200.2:c.867C>T | XP_005272257.1:p.Ile289= | |
| XM_011518705.1:c.981C>T | XP_011517007.1:p.Ile327= | |
| XM_005272200.3:c.867C>T | XP_005272257.1:p.Ile289= | |
| XM_011518705.2:c.981C>T | XP_011517007.1:p.Ile327= | |
| XM_017014729.1:c.963C>T | XP_016870218.1:p.Ile321= | |
| NM_054012.4:c.867C>T MANE Select | NP_446464.1:p.Ile289= |