Linked Data
ClinVar Variation Id:
12927
dbSNP Id:
rs121918617
gnomAD v3:
1-160127660-T-C
gnomAD v4:
1-160127660-T-C
PubMed:
PMID:17473835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160127660T>C , CM000663.2:g.160127660T>C | GRCh38 |
| NC_000001.10:g.160097450T>C , CM000663.1:g.160097450T>C | GRCh37 |
| NC_000001.9:g.158364074T>C | NCBI36 |
| NG_008014.1:g.16903T>C , LRG_6:g.16903T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361216.8:c.857T>C MANE Select | ENSP00000354490.3:p.Ile286Thr | |
| ENST00000361216.7:c.857T>C | ENSP00000354490.3:p.Ile286Thr | |
| ENST00000392233.7:c.857T>C | ENSP00000376066.3:p.Ile286Thr | |
| ENST00000472488.5:n.960T>C | ||
| NM_000702.3:c.857T>C | NP_000693.1:p.Ile286Thr | |
| NM_000702.4:c.857T>C MANE Select | NP_000693.1:p.Ile286Thr |