Linked Data
ClinVar Variation Id:
12420
ClinVar RCV Id:
RCV000013232
dbSNP Id:
rs104894725
PubMed:
PMID:9241277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151851T>G , CM000681.2:g.55151851T>G | GRCh38 |
| NC_000019.9:g.55663219T>G , CM000681.1:g.55663219T>G | GRCh37 |
| NC_000019.8:g.60355031T>G | NCBI36 |
| NG_007866.2:g.10882A>C , LRG_432:g.10882A>C | |
| NG_011829.2:g.2388A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.616A>C MANE Select | ENSP00000341838.5:p.Lys206Gln | |
| ENST00000665070.1:c.649A>C | ENSP00000499482.1:p.Lys217Gln | |
| ENST00000344887.9:c.616A>C | ENSP00000341838.5:p.Lys206Gln | |
| ENST00000585806.5:n.615A>C | ||
| ENST00000588882.1:c.541A>C | ENSP00000466729.1:p.Lys181Gln | |
| ENST00000589864.1:n.444A>C | ||
| NM_000363.4:c.616A>C , LRG_432t1:c.616A>C | NP_000354.4:p.Lys206Gln | |
| NM_000363.5:c.616A>C MANE Select | NP_000354.4:p.Lys206Gln |