Linked Data
ClinVar Variation Id:
191355
ClinVar RCV Id:
RCV000201456
dbSNP Id:
rs863223340
PubMed:
PMID:26497376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54622180T>G , CM000670.2:g.54622180T>G | GRCh38 |
| NC_000008.10:g.55534740T>G , CM000670.1:g.55534740T>G | GRCh37 |
| NC_000008.9:g.55697293T>G | NCBI36 |
| NG_009840.1:g.11114T>G | |
| NG_009840.2:g.11114T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.679T>G MANE Select | ENSP00000220676.1:p.Phe227Val | |
| ENST00000636932.1:c.679T>G | ENSP00000489857.1:p.Phe227Val | |
| ENST00000637698.1:c.679T>G | ENSP00000490104.1:p.Phe227Val | |
| ENST00000220676.1:c.679T>G | ENSP00000220676.1:p.Phe227Val | |
| NM_006269.1:c.679T>G | NP_006260.1:p.Phe227Val | |
| XM_017013721.1:c.700T>G | XP_016869210.1:p.Phe234Val | |
| XM_017013722.1:c.679T>G | XP_016869211.1:p.Phe227Val | |
| NM_001375654.1:c.679T>G | NP_001362583.1:p.Phe227Val | |
| NM_006269.2:c.679T>G MANE Select | NP_006260.1:p.Phe227Val |