Linked Data
ClinVar Variation Id:
144017
ClinVar RCV Id:
RCV000133526
dbSNP Id:
rs587777640
PubMed:
PMID:21816778
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143215097G>T , CM000670.2:g.143215097G>T | GRCh38 |
| NC_000008.10:g.144296972G>T , CM000670.1:g.144296972G>T | GRCh37 |
| NC_000008.9:g.144368347G>T | NCBI36 |
| NG_034256.1:g.6905G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622500.2:c.266G>T MANE Select | ENSP00000480053.1:p.Cys89Phe | |
| ENST00000622500.1:c.266G>T | ENSP00000480053.1:p.Cys89Phe | |
| NM_001301772.1:c.266G>T | NP_001288701.1:p.Cys89Phe | |
| NM_178172.5:c.266G>T | NP_835466.2:p.Cys89Phe | |
| NM_178172.6:c.266G>T MANE Select | NP_835466.2:p.Cys89Phe | |
| NM_001301772.2:c.266G>T | NP_001288701.1:p.Cys89Phe |