Linked Data
ClinVar Variation Id:
18108
dbSNP Id:
rs1136743
ExAC:
11:18290859 C / T
gnomAD v2:
11-18290859-C-T
gnomAD v3:
11-18269312-C-T
gnomAD v4:
11-18269312-C-T
PubMed:
PMID:7655463
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18269312C>T , CM000673.2:g.18269312C>T | GRCh38 |
| NC_000011.9:g.18290859C>T , CM000673.1:g.18290859C>T | GRCh37 |
| NC_000011.8:g.18247435C>T | NCBI36 |
| NG_021330.1:g.8052C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689650.1:c.209C>T | ENSP00000509190.1:p.Ala70Val | |
| ENST00000356524.9:c.209C>T MANE Select | ENSP00000348918.4:p.Ala70Val | |
| ENST00000649195.1:c.209C>T | ENSP00000497498.1:p.Ala70Val | |
| ENST00000356524.8:c.209C>T | ENSP00000348918.4:p.Ala70Val | |
| ENST00000405158.2:c.209C>T | ENSP00000384906.2:p.Ala70Val | |
| ENST00000532858.5:c.209C>T | ENSP00000436866.1:p.Ala70Val | |
| NM_000331.4:c.209C>T | NP_000322.2:p.Ala70Val | |
| NM_001178006.1:c.209C>T | NP_001171477.1:p.Ala70Val | |
| NM_199161.3:c.209C>T | NP_954630.1:p.Ala70Val | |
| NM_000331.5:c.209C>T | NP_000322.2:p.Ala70Val | |
| NM_001178006.2:c.209C>T | NP_001171477.1:p.Ala70Val | |
| NM_199161.4:c.209C>T | NP_954630.1:p.Ala70Val | |
| NM_199161.5:c.209C>T MANE Select | NP_954630.2:p.Ala70Val | |
| NM_000331.6:c.209C>T | NP_000322.3:p.Ala70Val | |
| NM_001178006.3:c.209C>T | NP_001171477.2:p.Ala70Val |