Linked Data
ClinVar Variation Id:
2228622
ClinVar RCV Id:
RCV004095201
dbSNP Id:
rs769724579
ExAC:
6:31584057 C / T
gnomAD v2:
6-31584057-C-T
gnomAD v3:
6-31616280-C-T
gnomAD v4:
6-31616280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31616280C>T , CM000668.2:g.31616280C>T | GRCh38 |
| NC_000006.11:g.31584057C>T , CM000668.1:g.31584057C>T | GRCh37 |
| NC_000006.10:g.31692036C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376059.8:c.197-64C>T MANE Select | ENSP00000365227.3:n.197-64C>T | |
| ENST00000337917.11:c.239-64C>T | ENSP00000338776.7:n.239-64C>T | |
| ENST00000376049.4:c.35-64C>T | ENSP00000365217.4:n.35-64C>T | |
| ENST00000376059.7:c.197-64C>T | ENSP00000365227.3:n.197-64C>T | |
| ENST00000466820.1:n.748C>T | ||
| ENST00000497362.5:n.750C>T | ||
| NM_001623.3:c.197-64C>T | NP_001614.3:n.197-64C>T | |
| NM_004847.3:c.169C>T | NP_004838.1:p.Arg57Trp | |
| NM_032955.1:c.35-64C>T | NP_116573.1:n.35-64C>T | |
| XM_005248870.3:c.331C>T | XP_005248927.1:p.Arg111Trp | |
| XM_005248871.1:c.260-64C>T | XP_005248928.1:n.260-64C>T | |
| NM_001318970.1:c.35-64C>T | NP_001305899.1:n.35-64C>T | |
| NM_001623.4:c.197-64C>T | NP_001614.3:n.197-64C>T | |
| NM_032955.2:c.35-64C>T | NP_116573.1:n.35-64C>T | |
| XM_005248870.4:c.331C>T | XP_005248927.1:p.Arg111Trp | |
| XM_017010332.1:c.169C>T | XP_016865821.1:p.Arg57Trp | |
| NM_001623.5:c.197-64C>T MANE Select | NP_001614.3:n.197-64C>T | |
| NM_001318970.2:c.35-64C>T | NP_001305899.1:n.35-64C>T | |
| NM_032955.3:c.35-64C>T | NP_116573.1:n.35-64C>T |