Linked Data
ClinVar Variation Id:
12430
ClinVar RCV Id:
RCV000013243
dbSNP Id:
rs267607130
PubMed:
PMID:19590045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157052T>G , CM000681.2:g.55157052T>G | GRCh38 |
| NC_000019.9:g.55668420T>G , CM000681.1:g.55668420T>G | GRCh37 |
| NC_000019.8:g.60360232T>G | NCBI36 |
| NG_007866.2:g.5681A>C , LRG_432:g.5681A>C | |
| NG_032759.1:g.14671A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.106A>C MANE Select | ENSP00000341838.5:p.Lys36Gln | |
| ENST00000665070.1:c.106A>C | ENSP00000499482.1:p.Lys36Gln | |
| ENST00000344887.9:c.106A>C | ENSP00000341838.5:p.Lys36Gln | |
| ENST00000586446.1:n.248A>C | ||
| ENST00000586669.5:n.114A>C | ||
| ENST00000587176.5:n.290A>C | ||
| ENST00000587871.1:c.725A>C | ||
| ENST00000590463.1:n.278A>C | ||
| NM_000363.4:c.106A>C , LRG_432t1:c.106A>C | NP_000354.4:p.Lys36Gln | |
| NM_000363.5:c.106A>C MANE Select | NP_000354.4:p.Lys36Gln |