Linked Data
ClinVar Variation Id:
37170
ClinVar RCV Id:
RCV000030781
dbSNP Id:
rs387907296
PubMed:
PMID:22553128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133973807T>A , CM000665.2:g.133973807T>A | GRCh38 |
| NC_000003.11:g.133692651T>A , CM000665.1:g.133692651T>A | GRCh37 |
| NC_000003.10:g.135175341T>A | NCBI36 |
| NG_031964.2:g.83378A>T | |
| NG_031964.3:g.83378A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310926.11:c.253A>T MANE Select | ENSP00000311291.4:p.Ile85Phe | |
| ENST00000310926.8:c.253A>T | ENSP00000311291.4:p.Ile85Phe | |
| ENST00000462770.5:n.376A>T | ||
| ENST00000464676.5:n.515A>T | ||
| ENST00000478651.1:n.376A>T | ||
| ENST00000481359.3:c.253A>T | ENSP00000420028.3:p.Ile85Phe | |
| ENST00000493729.5:c.253A>T | ENSP00000418893.1:p.Ile85Phe | |
| NM_005630.2:c.253A>T | NP_005621.2:p.Ile85Phe | |
| XM_011513090.1:c.253A>T | XP_011511392.1:p.Ile85Phe | |
| XM_017007077.1:c.-252A>T | XP_016862566.1:n.-252A>T | |
| XM_024453721.1:c.253A>T | XP_024309489.1:p.Ile85Phe | |
| NM_005630.3:c.253A>T MANE Select | NP_005621.2:p.Ile85Phe |