Linked Data
ClinVar Variation Id:
18232
ClinVar RCV Id:
RCV000019893
dbSNP Id:
rs80002911
PubMed:
PMID:1518850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73413451A>G , CM000666.2:g.73413451A>G | GRCh38 |
| NC_000004.11:g.74279168A>G , CM000666.1:g.74279168A>G | GRCh37 |
| NC_000004.10:g.74498032A>G | NCBI36 |
| NG_009291.1:g.14197A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.875A>G MANE Select | ENSP00000295897.4:p.Gln292Arg | |
| ENST00000295897.8:c.875A>G | ENSP00000295897.4:p.Gln292Arg | |
| ENST00000401494.7:c.530A>G | ENSP00000384695.3:p.Gln177Arg | |
| ENST00000415165.6:c.299A>G | ENSP00000401820.2:p.Gln100Arg | |
| ENST00000476441.6:c.*154A>G | ENSP00000423727.1:n.*154A>G | |
| ENST00000484992.1:n.195A>G | ||
| ENST00000503124.5:c.425A>G | ENSP00000421027.1:p.Gln142Arg | |
| ENST00000505649.5:n.561A>G | ||
| ENST00000509063.5:c.875A>G | ENSP00000422784.1:p.Gln292Arg | |
| ENST00000511370.1:c.408A>G | ||
| ENST00000621085.4:c.491-1655A>G | ENSP00000483421.1:n.491-1655A>G | |
| ENST00000621628.4:c.487-1651A>G | ENSP00000480485.1:n.487-1651A>G | |
| NM_000477.5:c.875A>G | NP_000468.1:p.Gln292Arg | |
| NM_000477.6:c.875A>G | NP_000468.1:p.Gln292Arg | |
| NM_000477.7:c.875A>G MANE Select | NP_000468.1:p.Gln292Arg |