Linked Data
ClinVar Variation Id:
30796
ClinVar RCV Id:
RCV000023781
dbSNP Id:
rs387907015
PubMed:
PMID:21255762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993614C>A , CM000665.2:g.121993614C>A | GRCh38 |
| NC_000003.11:g.121712461C>A , CM000665.1:g.121712461C>A | GRCh37 |
| NC_000003.10:g.123195151C>A | NCBI36 |
| NG_031870.1:g.33667G>T | |
| NG_031870.2:g.71941G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344209.10:c.1135G>T MANE Select | ENSP00000345667.5:p.Glu379Ter | |
| ENST00000460554.2:n.1085G>T | ||
| ENST00000642615.1:c.*318G>T | ENSP00000495499.1:n.*318G>T | |
| ENST00000273691.7:c.1003G>T | ENSP00000273691.3:p.Glu335Ter | |
| ENST00000344209.9:c.1135G>T | ENSP00000345667.5:p.Glu379Ter | |
| ENST00000393631.5:c.868G>T | ENSP00000377251.1:p.Glu290Ter | |
| ENST00000460554.1:n.1237G>T | ||
| ENST00000462014.1:c.1039G>T | ENSP00000419414.1:p.Glu347Ter | |
| NM_001199799.1:c.1135G>T | NP_001186728.1:p.Glu379Ter | |
| NM_001199800.1:c.868G>T | NP_001186729.1:p.Glu290Ter | |
| NM_175924.3:c.1003G>T | NP_787120.1:p.Glu335Ter | |
| XM_005247389.3:c.1039G>T | XP_005247446.1:p.Glu347Ter | |
| XM_011512738.1:c.1135G>T | XP_011511040.1:p.Glu379Ter | |
| XM_011512739.1:c.598G>T | XP_011511041.1:p.Glu200Ter | |
| XM_005247389.4:c.1039G>T | XP_005247446.1:p.Glu347Ter | |
| XM_011512738.2:c.1135G>T | XP_011511040.1:p.Glu379Ter | |
| XM_011512739.2:c.598G>T | XP_011511041.1:p.Glu200Ter | |
| NM_001199799.2:c.1135G>T MANE Select | NP_001186728.1:p.Glu379Ter | |
| NM_001199800.2:c.868G>T | NP_001186729.1:p.Glu290Ter | |
| NM_175924.4:c.1003G>T | NP_787120.1:p.Glu335Ter |