Linked Data
ClinVar Variation Id:
9359
ClinVar RCV Id:
RCV000009953
dbSNP Id:
rs267606857
PubMed:
PMID:20517349
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015404T>C , CM000679.2:g.8015404T>C | GRCh38 |
| NC_000017.10:g.7918722T>C , CM000679.1:g.7918722T>C | GRCh37 |
| NC_000017.9:g.7859447T>C | NCBI36 |
| NG_009092.1:g.17735T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254854.5:c.2846T>C MANE Select | ENSP00000254854.4:p.Ile949Thr | |
| ENST00000254854.4:c.2846T>C | ENSP00000254854.4:p.Ile949Thr | |
| NM_000180.3:c.2846T>C | NP_000171.1:p.Ile949Thr | |
| XM_011523816.1:c.2846T>C | XP_011522118.1:p.Ile949Thr | |
| NM_000180.4:c.2846T>C MANE Select | NP_000171.1:p.Ile949Thr |