Linked Data
ClinVar Variation Id:
2136376
ClinVar RCV Id:
RCV003060032
dbSNP Id:
rs1390917339
gnomAD v2:
6-32008756-C-T
gnomAD v3:
6-32040979-C-T
gnomAD v4:
6-32040979-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040979C>T , CM000668.2:g.32040979C>T | GRCh38 |
| NC_000006.11:g.32008756C>T , CM000668.1:g.32008756C>T | GRCh37 |
| NC_000006.10:g.32116735C>T | NCBI36 |
| NG_007941.2:g.7672C>T | |
| NG_008337.2:g.73396G>A | |
| NG_007941.3:g.7675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1333C>T MANE Select | ENSP00000496625.1:p.Arg445Ter | |
| ENST00000418967.6:c.1333C>T | ENSP00000408860.2:p.Arg445Ter | |
| ENST00000435122.3:c.1243C>T | ENSP00000415043.2:p.Arg415Ter | |
| ENST00000479074.5:n.1474C>T | ||
| ENST00000479730.5:n.1449C>T | ||
| ENST00000483041.5:n.1502C>T | ||
| ENST00000486063.5:n.1312C>T | ||
| NM_000500.7:c.1333C>T | NP_000491.4:p.Arg445Ter | |
| NM_001128590.3:c.1243C>T | NP_001122062.3:p.Arg415Ter | |
| XM_011514314.1:c.928C>T | XP_011512616.1:p.Arg310Ter | |
| NM_000500.9:c.1333C>T MANE Select | NP_000491.4:p.Arg445Ter | |
| NM_001368143.1:c.928C>T | NP_001355072.1:p.Arg310Ter | |
| NM_001368144.1:c.928C>T | NP_001355073.1:p.Arg310Ter | |
| NM_001128590.4:c.1243C>T | NP_001122062.3:p.Arg415Ter | |
| NM_001368143.2:c.928C>T | NP_001355072.1:p.Arg310Ter | |
| NM_001368144.2:c.928C>T | NP_001355073.1:p.Arg310Ter |