Linked Data
ClinVar Variation Id:
56095
ClinVar RCV Id:
RCV000049504
dbSNP Id:
rs386833577
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6620241T>A , CM000671.2:g.6620241T>A | GRCh38 |
| NC_000009.11:g.6620241T>A , CM000671.1:g.6620241T>A | GRCh37 |
| NC_000009.10:g.6610241T>A | NCBI36 |
| NG_016397.1:g.30452A>T , LRG_643:g.30452A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.413A>T MANE Select | ENSP00000370737.4:p.Tyr138Phe | |
| ENST00000639020.1:c.8A>T | ENSP00000491392.1:p.Tyr3Phe | |
| ENST00000639364.1:n.113A>T | ||
| ENST00000639840.1:c.119A>T | ENSP00000491161.1:p.Tyr40Phe | |
| ENST00000639954.1:n.179-9885A>T | ||
| ENST00000640592.1:n.296A>T | ||
| ENST00000321612.6:c.413A>T | ENSP00000370737.3:p.Tyr138Phe | |
| NM_000170.2:c.413A>T , LRG_643t1:c.413A>T | NP_000161.2:p.Tyr138Phe | |
| NM_000170.3:c.413A>T MANE Select | NP_000161.2:p.Tyr138Phe |