Linked Data
ClinVar Variation Id:
225295
ClinVar RCV Id:
RCV000490468
dbSNP Id:
rs1085307054
PubMed:
PMID:11941369
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73450308G>T , CM000664.2:g.73450308G>T | GRCh38 |
| NC_000002.11:g.73677435G>T , CM000664.1:g.73677435G>T | GRCh37 |
| NC_000002.10:g.73530943G>T | NCBI36 |
| NG_011690.1:g.69556G>T , LRG_741:g.69556G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.3400G>T | ENSP00000507671.1:p.Glu1134Ter | |
| ENST00000682801.1:c.3400G>T | ENSP00000507862.1:p.Glu1134Ter | |
| ENST00000682859.1:c.3400G>T | ENSP00000508222.1:p.Glu1134Ter | |
| ENST00000683791.1:c.685+18017G>T | ||
| ENST00000684460.1:c.852G>T | ||
| ENST00000684548.1:c.3400G>T | ENSP00000507421.1:p.Glu1134Ter | |
| ENST00000684656.1:c.852G>T | ||
| ENST00000613296.6:c.3781G>T MANE Select | ENSP00000482968.1:p.Glu1261Ter | |
| ENST00000484298.5:c.3655G>T | ENSP00000478155.1:p.Glu1219Ter | |
| ENST00000613296.4:c.3781G>T | ENSP00000482968.1:p.Glu1261Ter | |
| ENST00000614410.4:c.3781G>T | ENSP00000479094.1:p.Glu1261Ter | |
| NM_015120.4:c.3784G>T , LRG_741t1:c.3784G>T | NP_055935.4:p.Glu1262Ter | |
| NM_001378454.1:c.3781G>T MANE Select | NP_001365383.1:p.Glu1261Ter |