Linked Data
ClinVar Variation Id:
18452
ClinVar RCV Id:
RCV000012966
dbSNP Id:
rs267606757
PubMed:
PMID:18445671
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039162A>C , CM000668.2:g.32039162A>C | GRCh38 |
| NC_000006.11:g.32006939A>C , CM000668.1:g.32006939A>C | GRCh37 |
| NC_000006.10:g.32114918A>C | NCBI36 |
| NG_007941.2:g.5855A>C | |
| NG_008337.2:g.75213T>G | |
| NG_007941.3:g.5858A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.361A>C MANE Select | ENSP00000496625.1:p.Lys121Gln | |
| ENST00000418967.6:c.361A>C | ENSP00000408860.2:p.Lys121Gln | |
| ENST00000435122.3:c.271A>C | ENSP00000415043.2:p.Lys91Gln | |
| ENST00000464325.5:n.282A>C | ||
| ENST00000466779.5:c.*53A>C | ENSP00000417321.1:n.*53A>C | |
| ENST00000466879.5:n.412A>C | ||
| ENST00000469053.5:c.*53A>C | ENSP00000418104.1:n.*53A>C | |
| ENST00000471671.4:c.361A>C | ENSP00000418561.1:p.Lys121Gln | |
| ENST00000478281.5:c.394A>C | ENSP00000419572.1:p.Lys132Gln | |
| ENST00000479074.5:n.419A>C | ||
| ENST00000479730.5:n.516A>C | ||
| ENST00000483041.5:n.530A>C | ||
| ENST00000486063.5:n.541A>C | ||
| ENST00000488465.1:n.369A>C | ||
| NM_000500.7:c.361A>C | NP_000491.4:p.Lys121Gln | |
| NM_001128590.3:c.271A>C | NP_001122062.3:p.Lys91Gln | |
| XM_011514314.1:c.-45A>C | XP_011512616.1:n.-45A>C | |
| NM_000500.9:c.361A>C MANE Select | NP_000491.4:p.Lys121Gln | |
| NM_001368143.1:c.-45A>C | NP_001355072.1:n.-45A>C | |
| NM_001368144.1:c.-45A>C | NP_001355073.1:n.-45A>C | |
| NM_001128590.4:c.271A>C | NP_001122062.3:p.Lys91Gln | |
| NM_001368143.2:c.-45A>C | NP_001355072.1:n.-45A>C | |
| NM_001368144.2:c.-45A>C | NP_001355073.1:n.-45A>C |