Linked Data
ClinVar Variation Id:
217763
ClinVar RCV Id:
RCV000201835
dbSNP Id:
rs863225245
PubMed:
PMID:20301647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133643474G>T , CM000671.2:g.133643474G>T | GRCh38 |
| NC_000009.11:g.136508596G>T , CM000671.1:g.136508596G>T | GRCh37 |
| NC_000009.10:g.135498417G>T | NCBI36 |
| NG_008645.1:g.12112G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263611.3:c.653G>T | ENSP00000263611.3:p.Cys218Phe | |
| ENST00000393056.8:c.806G>T MANE Select | ENSP00000376776.2:p.Cys269Phe | |
| ENST00000263611.2:c.617G>T | ENSP00000263611.2:p.Cys206Phe | |
| ENST00000393056.6:c.806G>T | ENSP00000376776.2:p.Cys269Phe | |
| NM_000787.3:c.806G>T | NP_000778.3:p.Cys269Phe | |
| NM_000787.4:c.806G>T MANE Select | NP_000778.3:p.Cys269Phe |