Linked Data
ClinVar Variation Id:
224852
ClinVar RCV Id:
RCV000210423
dbSNP Id:
rs869312896
PubMed:
PMID:25045128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69071786A>G , CM000664.2:g.69071786A>G | GRCh38 |
| NC_000002.11:g.69298918A>G , CM000664.1:g.69298918A>G | GRCh37 |
| NC_000002.10:g.69152422A>G | NCBI36 |
| NG_012649.1:g.63643A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303714.9:c.411A>G MANE Select | ENSP00000301945.4:p.Gln137= | |
| ENST00000463335.2:c.411A>G | ENSP00000506719.1:p.Gln137= | |
| ENST00000481119.2:n.735A>G | ||
| ENST00000482235.2:c.411A>G | ENSP00000430776.2:p.Gln137= | |
| ENST00000679548.1:c.254A>G | ||
| ENST00000681816.1:c.411A>G | ENSP00000505171.1:p.Gln137= | |
| ENST00000303714.8:c.411A>G | ENSP00000301945.4:p.Gln137= | |
| ENST00000409349.7:c.411A>G | ENSP00000386494.3:p.Gln137= | |
| ENST00000409829.7:c.411A>G | ENSP00000387058.3:p.Gln137= | |
| ENST00000463335.1:n.554A>G | ||
| NM_018153.3:c.411A>G | NP_060623.2:p.Gln137= | |
| NM_032208.2:c.411A>G | NP_115584.1:p.Gln137= | |
| NM_053034.2:c.411A>G | NP_444262.1:p.Gln137= | |
| XM_011533124.1:c.411A>G | XP_011531426.1:p.Gln137= | |
| XR_939725.1:n.558A>G | ||
| XR_939726.1:n.558A>G | ||
| XM_017005075.2:c.411A>G | XP_016860564.1:p.Gln137= | |
| XM_017005076.2:c.411A>G | XP_016860565.1:p.Gln137= | |
| XM_017005077.2:c.411A>G | XP_016860566.1:p.Gln137= | |
| NM_032208.3:c.411A>G MANE Select | NP_115584.1:p.Gln137= |