Linked Data
ClinVar Variation Id:
65604
ClinVar RCV Id:
RCV000055813
dbSNP Id:
rs397515529
ExAC:
6:32008905 C / T
gnomAD v2:
6-32008905-C-T
gnomAD v4:
6-32041128-C-T
PubMed:
PMID:20301350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32041128C>T , CM000668.2:g.32041128C>T | GRCh38 |
| NC_000006.11:g.32008905C>T , CM000668.1:g.32008905C>T | GRCh37 |
| NC_000006.10:g.32116884C>T | NCBI36 |
| NG_007941.2:g.7821C>T | |
| NG_008337.2:g.73247G>A | |
| NG_007941.3:g.7824C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1482C>T MANE Select | ENSP00000496625.1:p.Ser494= | |
| ENST00000418967.6:c.1482C>T | ENSP00000408860.2:p.Ser494= | |
| ENST00000435122.3:c.1392C>T | ENSP00000415043.2:p.Ser464= | |
| ENST00000479074.5:n.1623C>T | ||
| ENST00000479730.5:n.1598C>T | ||
| ENST00000483041.5:n.1651C>T | ||
| ENST00000486063.5:n.1461C>T | ||
| NM_000500.7:c.1482C>T | NP_000491.4:p.Ser494= | |
| NM_001128590.3:c.1392C>T | NP_001122062.3:p.Ser464= | |
| XM_011514314.1:c.1077C>T | XP_011512616.1:p.Ser359= | |
| NM_000500.9:c.1482C>T MANE Select | NP_000491.4:p.Ser494= | |
| NM_001368143.1:c.1077C>T | NP_001355072.1:p.Ser359= | |
| NM_001368144.1:c.1077C>T | NP_001355073.1:p.Ser359= | |
| NM_001128590.4:c.1392C>T | NP_001122062.3:p.Ser464= | |
| NM_001368143.2:c.1077C>T | NP_001355072.1:p.Ser359= | |
| NM_001368144.2:c.1077C>T | NP_001355073.1:p.Ser359= |