Linked Data
ClinVar Variation Id:
11703
ClinVar RCV Id:
RCV000012469
dbSNP Id:
rs122453117
PubMed:
PMID:17101918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153691304G>T , CM000685.2:g.153691304G>T | GRCh38 |
| NC_000023.10:g.152956759G>T , CM000685.1:g.152956759G>T | GRCh37 |
| NC_000023.9:g.152609953G>T | NCBI36 |
| NG_012016.1:g.8008G>T | |
| NG_012016.2:g.8008G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253122.10:c.395G>T MANE Select | ENSP00000253122.5:p.Gly132Val | |
| ENST00000675713.1:n.149G>T | ||
| ENST00000253122.9:c.395G>T | ENSP00000253122.5:p.Gly132Val | |
| ENST00000430077.6:c.50G>T | ENSP00000403041.2:p.Gly17Val | |
| ENST00000466243.1:n.187G>T | ||
| NM_001142805.1:c.395G>T | NP_001136277.1:p.Gly132Val | |
| NM_001142806.1:c.50G>T | NP_001136278.1:p.Gly17Val | |
| NM_005629.3:c.395G>T | NP_005620.1:p.Gly132Val | |
| NM_005629.4:c.395G>T MANE Select | NP_005620.1:p.Gly132Val | |
| NM_001142805.2:c.395G>T | NP_001136277.1:p.Gly132Val |