Linked Data
ClinVar Variation Id:
11697
ClinVar RCV Id:
RCV000012463
dbSNP Id:
rs122453114
PubMed:
PMID:11898126
ERepo:
CA256011/MONDO:0010305/027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693586G>C , CM000685.2:g.153693586G>C | GRCh38 |
| NC_000023.10:g.152959041G>C , CM000685.1:g.152959041G>C | GRCh37 |
| NC_000023.9:g.152612235G>C | NCBI36 |
| NG_012016.1:g.10290G>C | |
| NG_012016.2:g.10290G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253122.10:c.1141G>C MANE Select | ENSP00000253122.5:p.Gly381Arg | |
| ENST00000253122.9:c.1141G>C | ENSP00000253122.5:p.Gly381Arg | |
| ENST00000413787.1:c.257G>C | ENSP00000400463.1:p.Arg86Thr | |
| ENST00000430077.6:c.796G>C | ENSP00000403041.2:p.Gly266Arg | |
| ENST00000442457.1:c.195G>C | ||
| ENST00000457723.1:c.125G>C | ENSP00000394742.1:p.Arg42Thr | |
| ENST00000467402.1:n.240G>C | ||
| ENST00000485324.1:n.1174G>C | ||
| NM_001142805.1:c.1111G>C | NP_001136277.1:p.Gly371Arg | |
| NM_001142806.1:c.796G>C | NP_001136278.1:p.Gly266Arg | |
| NM_005629.3:c.1141G>C | NP_005620.1:p.Gly381Arg | |
| NM_005629.4:c.1141G>C MANE Select | NP_005620.1:p.Gly381Arg | |
| NM_001142805.2:c.1111G>C | NP_001136277.1:p.Gly371Arg |