Linked Data
ClinVar Variation Id:
350611
dbSNP Id:
rs755177047
ExAC:
5:126113341 C / T
gnomAD v2:
5-126113341-C-T
gnomAD v3:
5-126777649-C-T
gnomAD v4:
5-126777649-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126777649C>T , CM000667.2:g.126777649C>T | GRCh38 |
| NC_000005.9:g.126113341C>T , CM000667.1:g.126113341C>T | GRCh37 |
| NC_000005.8:g.126141240C>T | NCBI36 |
| NG_008360.2:g.5509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261366.10:c.141C>T MANE Select | ENSP00000261366.5:p.Ile47= | |
| ENST00000261366.9:c.141C>T | ENSP00000261366.5:p.Ile47= | |
| ENST00000395354.1:c.141C>T | ENSP00000378761.1:p.Ile47= | |
| ENST00000460265.5:c.141C>T | ENSP00000486528.1:p.Ile47= | |
| ENST00000463908.2:n.29-49C>T | ||
| ENST00000472034.5:n.92+397C>T | ||
| ENST00000492190.5:c.141C>T | ENSP00000486992.1:p.Ile47= | |
| ENST00000504788.5:n.92+405C>T | ||
| NM_001198557.1:c.-272+405C>T | NP_001185486.1:n.-272+405C>T | |
| NM_005573.3:c.141C>T | NP_005564.1:p.Ile47= | |
| XR_948250.1:n.505C>T | ||
| NR_134488.1:n.1027C>T | ||
| NM_005573.4:c.141C>T MANE Select | NP_005564.1:p.Ile47= | |
| NM_001198557.2:c.-272+405C>T | NP_001185486.1:n.-272+405C>T |