Linked Data
ClinVar Variation Id:
219176
ClinVar RCV Id:
RCV000203548
dbSNP Id:
rs150363441
PubMed:
PMID:19135028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208301C>G , CM000677.2:g.68208301C>G | GRCh38 |
| NC_000015.9:g.68500639C>G , CM000677.1:g.68500639C>G | GRCh37 |
| NC_000015.8:g.66287693C>G | NCBI36 |
| NG_008764.2:g.53911G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.775G>C MANE Select | ENSP00000249806.5:p.Gly259Arg | |
| ENST00000562767.2:c.84-10673G>C | ENSP00000456336.1:n.84-10673G>C | |
| ENST00000565471.6:c.316G>C | ENSP00000457384.1:p.Gly106Arg | |
| ENST00000635747.1:c.*678G>C | ENSP00000490627.1:n.*678G>C | |
| ENST00000636212.1:c.*445G>C | ENSP00000489851.1:n.*445G>C | |
| ENST00000636674.1:n.1877G>C | ||
| ENST00000636964.1:n.2303G>C | ||
| ENST00000637054.1:c.198+10235G>C | ENSP00000490807.1:n.198+10235G>C | |
| ENST00000637329.1:c.744G>C | ||
| ENST00000637450.1:c.*429G>C | ENSP00000490204.1:n.*429G>C | |
| ENST00000637494.1:c.487G>C | ENSP00000490057.1:p.Gly163Arg | |
| ENST00000637667.1:c.676G>C | ENSP00000489843.1:p.Gly226Arg | |
| ENST00000637823.1:c.600G>C | ||
| ENST00000637888.1:c.198+10235G>C | ENSP00000490546.1:n.198+10235G>C | |
| ENST00000638076.1:c.*378G>C | ENSP00000490373.1:n.*378G>C | |
| ENST00000638144.1:n.418G>C | ||
| ENST00000646164.1:c.39-8620G>C | ||
| ENST00000249806.9:c.775G>C | ENSP00000249806.5:p.Gly259Arg | |
| ENST00000538696.5:c.871G>C | ENSP00000445770.1:p.Gly291Arg | |
| ENST00000562767.1:c.84-10673G>C | ENSP00000456336.1:n.84-10673G>C | |
| ENST00000565471.5:c.316G>C | ENSP00000457384.1:p.Gly106Arg | |
| ENST00000566347.5:c.586G>C | ENSP00000457783.1:p.Gly196Arg | |
| ENST00000567060.5:c.*173G>C | ENSP00000454818.1:n.*173G>C | |
| NM_017882.2:c.775G>C | NP_060352.1:p.Gly259Arg | |
| NM_017882.3:c.775G>C MANE Select | NP_060352.1:p.Gly259Arg |