Linked Data
ClinVar Variation Id:
7003
ClinVar RCV Id:
RCV000007418
dbSNP Id:
rs121909488
PubMed:
PMID:9618165
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126690862G>T , CM000671.2:g.126690862G>T | GRCh38 |
| NC_000009.11:g.129453141G>T , CM000671.1:g.129453141G>T | GRCh37 |
| NC_000009.10:g.128492962G>T | NCBI36 |
| NG_017039.1:g.81420G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.353G>T | ENSP00000347684.5:p.Cys118Phe | |
| ENST00000373474.9:c.353G>T MANE Select | ENSP00000362573.3:p.Cys118Phe | |
| ENST00000526117.6:c.353G>T | ENSP00000436930.1:p.Cys118Phe | |
| ENST00000355497.9:c.353G>T | ENSP00000347684.5:p.Cys118Phe | |
| ENST00000373474.8:c.353G>T | ENSP00000362573.3:p.Cys118Phe | |
| ENST00000526117.5:c.353G>T | ENSP00000436930.1:p.Cys118Phe | |
| ENST00000561065.1:c.284G>T | ENSP00000453580.1:p.Cys95Phe | |
| NM_001174146.1:c.353G>T | NP_001167617.1:p.Cys118Phe | |
| NM_001174147.1:c.353G>T | NP_001167618.1:p.Cys118Phe | |
| NM_002316.3:c.353G>T | NP_002307.2:p.Cys118Phe | |
| NM_001174146.2:c.353G>T | NP_001167617.1:p.Cys118Phe | |
| NM_001174147.2:c.353G>T MANE Select | NP_001167618.1:p.Cys118Phe | |
| NM_002316.4:c.353G>T | NP_002307.2:p.Cys118Phe |