Linked Data
ClinVar Variation Id:
11431
ClinVar RCV Id:
RCV000012184
dbSNP Id:
rs104894905
PubMed:
PMID:12966526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152862632G>T , CM000685.2:g.152862632G>T | GRCh38 |
| NC_000023.10:g.152031176G>T , CM000685.1:g.152031176G>T | GRCh37 |
| NC_000023.9:g.151781832G>T | NCBI36 |
| NG_009163.1:g.36666G>T | |
| NG_009163.2:g.36666G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370274.8:c.451G>T MANE Select | ENSP00000359297.3:p.Glu151Ter | |
| ENST00000370274.7:c.451G>T | ENSP00000359297.3:p.Glu151Ter | |
| ENST00000432467.1:c.451G>T | ENSP00000396266.1:p.Glu151Ter | |
| ENST00000440023.5:c.451G>T | ENSP00000391854.1:p.Glu151Ter | |
| NM_001129765.1:c.451G>T | NP_001123237.1:p.Glu151Ter | |
| NM_015922.2:c.451G>T | NP_057006.1:p.Glu151Ter | |
| XM_011531178.1:c.451G>T | XP_011529480.1:p.Glu151Ter | |
| XM_011531178.2:c.451G>T | XP_011529480.1:p.Glu151Ter | |
| XM_017029564.1:c.499G>T | XP_016885053.1:p.Glu167Ter | |
| NM_015922.3:c.451G>T MANE Select | NP_057006.1:p.Glu151Ter | |
| NM_001129765.2:c.451G>T | NP_001123237.1:p.Glu151Ter |