Linked Data
ClinVar Variation Id:
1335761
ClinVar RCV Id:
RCV001816533
dbSNP Id:
rs1188501864
gnomAD v2:
X-40996179-C-T
gnomAD v4:
X-41136926-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41136926C>T , CM000685.2:g.41136926C>T | GRCh38 |
| NC_000023.10:g.40996179C>T , CM000685.1:g.40996179C>T | GRCh37 |
| NC_000023.9:g.40881123C>T | NCBI36 |
| NG_012547.1:g.56292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703986.1:c.558C>T | ENSP00000515603.1:p.Ile186= | |
| ENST00000703987.1:c.558C>T | ENSP00000515604.1:p.Ile186= | |
| ENST00000704649.1:c.558C>T | ENSP00000515974.1:p.Ile186= | |
| ENST00000704650.1:c.558C>T | ENSP00000515975.1:p.Ile186= | |
| ENST00000704651.1:c.558C>T | ENSP00000515976.1:p.Ile186= | |
| ENST00000324545.9:c.558C>T | ENSP00000316357.6:p.Ile186= | |
| ENST00000378308.7:c.558C>T MANE Select | ENSP00000367558.2:p.Ile186= | |
| ENST00000324545.8:c.558C>T | ENSP00000316357.6:p.Ile186= | |
| ENST00000378308.6:c.558C>T | ENSP00000367558.2:p.Ile186= | |
| NM_001039590.2:c.558C>T | NP_001034679.2:p.Ile186= | |
| NM_001039591.2:c.558C>T | NP_001034680.2:p.Ile186= | |
| XM_005272675.3:c.558C>T | XP_005272732.1:p.Ile186= | |
| XM_005272676.3:c.558C>T | XP_005272733.1:p.Ile186= | |
| XM_005272675.4:c.558C>T | XP_005272732.1:p.Ile186= | |
| XM_005272676.4:c.558C>T | XP_005272733.1:p.Ile186= | |
| NM_001039591.3:c.558C>T MANE Select | NP_001034680.2:p.Ile186= | |
| NM_001039590.3:c.558C>T | NP_001034679.2:p.Ile186= |