Linked Data
ClinVar Variation Id:
41018
ClinVar RCV Id:
RCV000033915
dbSNP Id:
rs267607244
ExAC:
1:161276680 A / G
gnomAD v2:
1-161276680-A-G
gnomAD v4:
1-161306890-A-G
PubMed:
PMID:20301384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306890A>G , CM000663.2:g.161306890A>G | GRCh38 |
| NC_000001.10:g.161276680A>G , CM000663.1:g.161276680A>G | GRCh37 |
| NC_000001.9:g.159543304A>G | NCBI36 |
| NG_008055.1:g.8083T>C , LRG_256:g.8083T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526189.3:c.266T>C | ENSP00000488104.2:p.Ile89Thr | |
| ENST00000533357.5:c.266T>C MANE Select | ENSP00000432943.1:p.Ile89Thr | |
| ENST00000672287.2:c.-323T>C | ENSP00000499818.2:n.-323T>C | |
| ENST00000672602.2:c.266T>C | ENSP00000500814.2:p.Ile89Thr | |
| ENST00000674861.1:n.329T>C | ||
| ENST00000463290.5:c.266T>C | ENSP00000431538.1:p.Ile89Thr | |
| ENST00000491222.5:c.-323T>C | ENSP00000431441.1:n.-323T>C | |
| ENST00000526189.2:c.10T>C | ||
| ENST00000533357.4:c.266T>C | ENSP00000432943.1:p.Ile89Thr | |
| NM_000530.6:c.266T>C , LRG_256t1:c.266T>C | NP_000521.2:p.Ile89Thr | |
| NM_000530.7:c.266T>C | NP_000521.2:p.Ile89Thr | |
| NM_001315491.1:c.266T>C | NP_001302420.1:p.Ile89Thr | |
| XM_017001321.2:c.296T>C | XP_016856810.1:p.Ile99Thr | |
| NM_000530.8:c.266T>C MANE Select | NP_000521.2:p.Ile89Thr | |
| NM_001315491.2:c.266T>C | NP_001302420.1:p.Ile89Thr |