Linked Data
ClinVar Variation Id:
8562
ClinVar RCV Id:
RCV000009093
dbSNP Id:
rs121912564
PubMed:
PMID:12788847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148194825G>T , CM000666.2:g.148194825G>T | GRCh38 |
| NC_000004.11:g.149115976G>T , CM000666.1:g.149115976G>T | GRCh37 |
| NC_000004.10:g.149335426G>T | NCBI36 |
| NG_013350.1:g.252697C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358102.8:c.1935C>A MANE Select | ENSP00000350815.3:p.Cys645Ter | |
| ENST00000342437.8:c.1935C>A | ENSP00000343907.4:p.Cys645Ter | |
| ENST00000344721.8:c.1935C>A | ENSP00000341390.4:p.Cys645Ter | |
| ENST00000358102.7:c.1935C>A | ENSP00000350815.3:p.Cys645Ter | |
| ENST00000503313.1:n.132C>A | ||
| ENST00000504753.1:n.384C>A | ||
| ENST00000511528.1:c.1947C>A | ENSP00000421481.1:p.Cys649Ter | |
| ENST00000512865.5:c.1935C>A | ENSP00000423510.1:p.Cys645Ter | |
| ENST00000625323.2:c.1947C>A | ENSP00000486719.1:p.Cys649Ter | |
| NM_000901.4:c.1935C>A | NP_000892.2:p.Cys645Ter | |
| NM_001166104.1:c.1935C>A | NP_001159576.1:p.Cys645Ter | |
| XM_011531975.1:c.1947C>A | XP_011530277.1:p.Cys649Ter | |
| XM_011531976.1:c.1947C>A | XP_011530278.1:p.Cys649Ter | |
| XM_011531977.1:c.1947C>A | XP_011530279.1:p.Cys649Ter | |
| XM_011531978.1:c.1947C>A | XP_011530280.1:p.Cys649Ter | |
| NM_001354819.1:c.1935C>A | NP_001341748.1:p.Cys645Ter | |
| NR_148974.1:n.2298C>A | ||
| XM_011531978.2:c.1947C>A | XP_011530280.1:p.Cys649Ter | |
| NM_000901.5:c.1935C>A MANE Select | NP_000892.2:p.Cys645Ter | |
| NM_001166104.2:c.1935C>A | NP_001159576.1:p.Cys645Ter | |
| NR_148974.2:n.2192C>A |