Linked Data
ClinVar Variation Id:
38955
ClinVar RCV Id:
RCV000032206
dbSNP Id:
rs199422248
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154770784A>G , CM000685.2:g.154770784A>G | GRCh38 |
| NC_000023.10:g.153999059A>G , CM000685.1:g.153999059A>G | GRCh37 |
| NC_000023.9:g.153652253A>G | NCBI36 |
| NG_009780.1:g.13029A>G , LRG_55:g.13029A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.821A>G | ENSP00000400542.2:p.Lys274Arg | |
| ENST00000426673.6:c.*324A>G | ENSP00000407253.3:n.*324A>G | |
| ENST00000484317.6:n.726A>G | ||
| ENST00000696575.1:c.941A>G | ENSP00000512730.1:p.Lys314Arg | |
| ENST00000696577.1:c.941A>G | ENSP00000512731.1:p.Lys314Arg | |
| ENST00000696578.1:c.915+1474A>G | ENSP00000512732.1:n.915+1474A>G | |
| ENST00000696579.1:n.1043A>G | ||
| ENST00000696580.1:c.854A>G | ENSP00000512733.1:p.Lys285Arg | |
| ENST00000696581.1:c.*915A>G | ENSP00000512734.1:n.*915A>G | |
| ENST00000696582.1:c.*147A>G | ENSP00000512735.1:n.*147A>G | |
| ENST00000696583.1:c.902A>G | ENSP00000512736.1:p.Lys301Arg | |
| ENST00000696584.1:n.1465A>G | ||
| ENST00000696585.1:n.1584A>G | ||
| ENST00000696586.1:n.1358A>G | ||
| ENST00000696587.1:c.821A>G | ENSP00000512737.1:p.Lys274Arg | |
| ENST00000696588.1:c.332A>G | ENSP00000513251.1:p.Lys111Arg | |
| ENST00000696589.1:n.716A>G | ||
| ENST00000696590.1:n.565A>G | ||
| ENST00000696591.1:n.290A>G | ||
| ENST00000696627.1:c.941A>G | ENSP00000512764.1:p.Lys314Arg | |
| ENST00000696628.1:c.941A>G | ENSP00000512765.1:p.Lys314Arg | |
| ENST00000369550.10:c.941A>G MANE Select | ENSP00000358563.5:p.Lys314Arg | |
| ENST00000369550.9:c.941A>G | ENSP00000358563.5:p.Lys314Arg | |
| ENST00000412124.5:c.199A>G | ||
| ENST00000426673.5:c.301A>G | ||
| ENST00000475966.1:n.430A>G | ||
| ENST00000484317.5:n.579A>G | ||
| ENST00000620277.4:c.941A>G | ENSP00000478387.1:p.Lys314Arg | |
| NM_001142463.2:c.941A>G | NP_001135935.1:p.Lys314Arg | |
| NM_001288747.1:c.941A>G | NP_001275676.1:p.Lys314Arg | |
| NM_001363.4:c.941A>G | NP_001354.1:p.Lys314Arg | |
| NR_110021.1:n.1642A>G | ||
| NR_110022.1:n.1761A>G | ||
| NR_110023.1:n.1535A>G | ||
| NM_001363.5:c.941A>G MANE Select | NP_001354.1:p.Lys314Arg | |
| NM_001142463.3:c.941A>G | NP_001135935.1:p.Lys314Arg | |
| NR_110021.2:n.1520A>G | ||
| NR_110022.2:n.1639A>G | ||
| NR_110023.2:n.1413A>G | ||
| NM_001288747.2:c.941A>G | NP_001275676.1:p.Lys314Arg |