Linked Data
ClinVar Variation Id:
1815
ClinVar RCV Id:
RCV000001888
dbSNP Id:
rs121434317
PubMed:
PMID:19443465
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351113A>T , CM000677.2:g.38351113A>T | GRCh38 |
| NC_000015.9:g.38643314A>T , CM000677.1:g.38643314A>T | GRCh37 |
| NC_000015.8:g.36430606A>T | NCBI36 |
| NG_008980.1:g.103263A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.784A>T MANE Select | ENSP00000299084.4:p.Arg262Ter | |
| ENST00000299084.8:c.784A>T | ENSP00000299084.4:p.Arg262Ter | |
| NM_152594.2:c.784A>T | NP_689807.1:p.Arg262Ter | |
| XM_005254202.2:c.820A>T | XP_005254259.1:p.Arg274Ter | |
| XM_005254203.3:c.562A>T | XP_005254260.1:p.Arg188Ter | |
| XM_011521288.1:c.721A>T | XP_011519590.1:p.Arg241Ter | |
| XM_011521289.1:c.721A>T | XP_011519591.1:p.Arg241Ter | |
| XM_011521290.1:c.721A>T | XP_011519592.1:p.Arg241Ter | |
| XM_005254202.3:c.820A>T | XP_005254259.1:p.Arg274Ter | |
| XM_011521289.3:c.721A>T | XP_011519591.1:p.Arg241Ter | |
| NM_152594.3:c.784A>T MANE Select | NP_689807.1:p.Arg262Ter |