Linked Data
ClinVar Variation Id:
266073
ClinVar RCV Id:
RCV000256478
dbSNP Id:
rs751375244
ExAC:
1:36605377 G / A
gnomAD v2:
1-36605377-G-A
gnomAD v3:
1-36139776-G-A
gnomAD v4:
1-36139776-G-A
PubMed:
PMID:27894351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36139776G>A , CM000663.2:g.36139776G>A | GRCh38 |
| NC_000001.10:g.36605377G>A , CM000663.1:g.36605377G>A | GRCh37 |
| NC_000001.9:g.36377964G>A | NCBI36 |
| NG_052857.1:g.21278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373166.8:c.184C>T MANE Select | ENSP00000362261.3:p.Arg62Trp | |
| ENST00000373159.1:c.184C>T | ENSP00000362253.1:p.Arg62Trp | |
| ENST00000373162.5:c.46C>T | ENSP00000362256.1:p.Arg16Trp | |
| ENST00000373163.5:c.46C>T | ENSP00000362257.1:p.Arg16Trp | |
| ENST00000373166.7:c.184C>T | ENSP00000362261.3:p.Arg62Trp | |
| ENST00000462715.1:n.974C>T | ||
| ENST00000469757.1:n.161-2454C>T | ||
| ENST00000497251.1:n.338C>T | ||
| ENST00000616074.4:c.43-1798C>T | ENSP00000482052.1:n.43-1798C>T | |
| ENST00000616395.4:c.208C>T | ENSP00000480332.1:p.Arg70Trp | |
| ENST00000617904.4:c.46C>T | ENSP00000480648.1:p.Arg16Trp | |
| NM_001270894.1:c.208C>T | NP_001257823.1:p.Arg70Trp | |
| NM_001270895.1:c.46C>T | NP_001257824.1:p.Arg16Trp | |
| NM_001270896.1:c.46C>T | NP_001257825.1:p.Arg16Trp | |
| NM_001270897.1:c.43-1798C>T | NP_001257826.1:n.43-1798C>T | |
| NM_014408.4:c.184C>T | NP_055223.1:p.Arg62Trp | |
| NR_073097.1:n.424-1798C>T | ||
| NR_073098.1:n.179-2454C>T | ||
| NM_014408.5:c.184C>T MANE Select | NP_055223.1:p.Arg62Trp | |
| NM_001270896.2:c.46C>T | NP_001257825.1:p.Arg16Trp | |
| NR_073097.2:n.396-1798C>T | ||
| NR_073098.2:n.151-2454C>T | ||
| NM_001270894.2:c.208C>T | NP_001257823.1:p.Arg70Trp | |
| NM_001270895.2:c.46C>T | NP_001257824.1:p.Arg16Trp | |
| NM_001270897.2:c.43-1798C>T | NP_001257826.1:n.43-1798C>T |