Linked Data
ClinVar Variation Id:
1049
ClinVar RCV Id:
RCV000001104
dbSNP Id:
rs121918216
gnomAD v2:
2-220432509-G-A
gnomAD v3:
2-219567787-G-A
gnomAD v4:
2-219567787-G-A
PubMed:
PMID:19481195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219567787G>A , CM000664.2:g.219567787G>A | GRCh38 |
| NC_000002.11:g.220432509G>A , CM000664.1:g.220432509G>A | GRCh37 |
| NC_000002.10:g.220140753G>A | NCBI36 |
| NG_016977.1:g.8760C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404537.6:c.1465C>T MANE Select | ENSP00000385636.1:p.Arg489Ter | |
| ENST00000289656.3:c.226C>T | ENSP00000289656.3:p.Arg76Ter | |
| ENST00000373873.8:c.1465C>T | ENSP00000362980.4:p.Arg489Ter | |
| ENST00000373876.5:c.1465C>T | ENSP00000362983.1:p.Arg489Ter | |
| ENST00000404537.5:c.1465C>T | ENSP00000385636.1:p.Arg489Ter | |
| ENST00000465149.1:n.972C>T | ||
| ENST00000603926.5:c.1465C>T | ENSP00000474519.1:p.Arg489Ter | |
| NM_001173408.1:c.1465C>T | NP_001166879.1:p.Arg489Ter | |
| NM_001173431.1:c.1465C>T | NP_001166902.1:p.Arg489Ter | |
| NM_015311.2:c.1465C>T | NP_056126.1:p.Arg489Ter | |
| XM_005246424.3:c.1465C>T | XP_005246481.1:p.Arg489Ter | |
| XM_005246427.3:c.1465C>T | XP_005246484.1:p.Arg489Ter | |
| XM_011510854.1:c.1465C>T | XP_011509156.1:p.Arg489Ter | |
| XM_011510855.1:c.1465C>T | XP_011509157.1:p.Arg489Ter | |
| XM_011510856.1:c.1465C>T | XP_011509158.1:p.Arg489Ter | |
| XM_011510857.1:c.1465C>T | XP_011509159.1:p.Arg489Ter | |
| XM_011510858.1:c.1465C>T | XP_011509160.1:p.Arg489Ter | |
| XM_011510859.1:c.1465C>T | XP_011509161.1:p.Arg489Ter | |
| XM_011510860.1:c.1465C>T | XP_011509162.1:p.Arg489Ter | |
| XM_011510861.1:c.1465C>T | XP_011509163.1:p.Arg489Ter | |
| XM_011510862.1:c.1465C>T | XP_011509164.1:p.Arg489Ter | |
| XM_011510863.1:c.1465C>T | XP_011509165.1:p.Arg489Ter | |
| XM_011510864.1:c.1465C>T | XP_011509166.1:p.Arg489Ter | |
| XM_011510865.1:c.1465C>T | XP_011509167.1:p.Arg489Ter | |
| XM_011510866.1:c.1465C>T | XP_011509168.1:p.Arg489Ter | |
| XM_011510857.2:c.1465C>T | XP_011509159.1:p.Arg489Ter | |
| XM_011510863.3:c.1465C>T | XP_011509165.1:p.Arg489Ter | |
| XM_011510864.2:c.1465C>T | XP_011509166.1:p.Arg489Ter | |
| XM_011510865.2:c.1465C>T | XP_011509167.1:p.Arg489Ter | |
| XM_011510866.2:c.1465C>T | XP_011509168.1:p.Arg489Ter | |
| XM_017003696.2:c.1465C>T | XP_016859185.1:p.Arg489Ter | |
| XM_017003697.2:c.1465C>T | XP_016859186.1:p.Arg489Ter | |
| XM_017003698.1:c.1465C>T | XP_016859187.1:p.Arg489Ter | |
| XM_017003699.1:c.1465C>T | XP_016859188.1:p.Arg489Ter | |
| XM_017003700.1:c.1465C>T | XP_016859189.1:p.Arg489Ter | |
| NM_015311.3:c.1465C>T MANE Select | NP_056126.1:p.Arg489Ter | |
| NM_001173408.2:c.1465C>T | NP_001166879.1:p.Arg489Ter | |
| NM_001173431.2:c.1465C>T | NP_001166902.1:p.Arg489Ter |