Linked Data
ClinVar Variation Id:
1536892
ClinVar RCV Id:
RCV002156950
dbSNP Id:
rs1239941012
gnomAD v2:
12-56115570-C-T
gnomAD v4:
12-55721786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55721786C>T , CM000674.2:g.55721786C>T | GRCh38 |
| NC_000012.11:g.56115570C>T , CM000674.1:g.56115570C>T | GRCh37 |
| NC_000012.10:g.54401837C>T | NCBI36 |
| NG_008606.1:g.6420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257895.10:c.408C>T MANE Select | ENSP00000257895.6:p.Asn136= | |
| ENST00000257895.9:c.408C>T | ENSP00000257895.5:p.Asn136= | |
| ENST00000257899.3:c.423C>T | ||
| ENST00000547072.5:c.117C>T | ENSP00000449927.1:p.Asn39= | |
| ENST00000547301.1:n.516C>T | ||
| ENST00000548082.1:c.408C>T | ENSP00000447128.1:p.Asn136= | |
| ENST00000548123.1:c.300+292C>T | ||
| ENST00000548486.1:n.418C>T | ||
| ENST00000549424.1:c.*80C>T | ENSP00000447621.1:n.*80C>T | |
| ENST00000550412.5:c.*80C>T | ENSP00000447650.1:n.*80C>T | |
| ENST00000550608.1:n.547C>T | ||
| ENST00000551946.5:c.*211C>T | ENSP00000450201.1:n.*211C>T | |
| ENST00000552930.5:c.117C>T | ENSP00000448014.1:p.Asn39= | |
| ENST00000553160.1:n.406-409C>T | ||
| ENST00000553187.5:n.418C>T | ||
| NM_001199771.1:c.408C>T | NP_001186700.1:p.Asn136= | |
| NM_002905.3:c.408C>T | NP_002896.2:p.Asn136= | |
| NR_037658.1:n.467C>T | ||
| NM_001199771.2:c.408C>T | NP_001186700.1:p.Asn136= | |
| NM_002905.5:c.408C>T MANE Select | NP_002896.2:p.Asn136= | |
| NM_001199771.3:c.408C>T | NP_001186700.1:p.Asn136= |