Linked Data
ClinVar Variation Id:
1679268
ClinVar RCV Id:
RCV002226865
dbSNP Id:
rs1308325707
gnomAD v4:
8-81659368-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81659368G>A , CM000670.2:g.81659368G>A | GRCh38 |
| NC_000008.10:g.82571603G>A , CM000670.1:g.82571603G>A | GRCh37 |
| NC_000008.9:g.82734158G>A | NCBI36 |
| NG_015829.1:g.31987C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256108.10:c.817C>T MANE Select | ENSP00000256108.5:p.Arg273Ter | |
| ENST00000256108.9:c.817C>T | ENSP00000256108.5:p.Arg273Ter | |
| ENST00000311489.8:c.*111C>T | ENSP00000311803.4:n.*111C>T | |
| ENST00000449740.6:c.994C>T | ENSP00000408526.2:p.Arg332Ter | |
| NM_001144878.1:c.994C>T | NP_001138350.1:p.Arg332Ter | |
| NM_001144879.1:c.*111C>T | NP_001138351.1:n.*111C>T | |
| NM_005536.3:c.817C>T | NP_005527.1:p.Arg273Ter | |
| NM_005536.4:c.817C>T MANE Select | NP_005527.1:p.Arg273Ter | |
| NM_001144878.2:c.994C>T | NP_001138350.1:p.Arg332Ter | |
| NM_001144879.2:c.*111C>T | NP_001138351.1:n.*111C>T |