Linked Data
ClinVar Variation Id:
864
ClinVar RCV Id:
RCV000000912
dbSNP Id:
rs118203953
PubMed:
PMID:18176953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11285822C>G , CM000663.2:g.11285822C>G | GRCh38 |
| NC_000001.10:g.11345879C>G , CM000663.1:g.11345879C>G | GRCh37 |
| NC_000001.9:g.11268466C>G | NCBI36 |
| NG_009443.1:g.17625C>G | |
| NG_009443.2:g.17625C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376810.6:c.708C>G MANE Select | ENSP00000366006.5:p.Asp236Glu | |
| ENST00000376804.2:c.530-9051C>G | ENSP00000366000.1:n.530-9051C>G | |
| ENST00000376810.5:c.708C>G | ENSP00000366006.5:p.Asp236Glu | |
| ENST00000483738.1:c.216+90C>G | ENSP00000473453.1:n.216+90C>G | |
| ENST00000486588.6:c.261+90C>G | ENSP00000473612.1:n.261+90C>G | |
| NM_013319.2:c.708C>G | NP_037451.1:p.Asp236Glu | |
| XM_006710590.2:c.618+90C>G | XP_006710653.1:n.618+90C>G | |
| XM_011541304.1:c.530-9051C>G | XP_011539606.1:n.530-9051C>G | |
| XR_946616.1:n.952+90C>G | ||
| NM_001330349.1:c.618+90C>G | NP_001317278.1:n.618+90C>G | |
| NM_001330350.1:c.530-9051C>G | NP_001317279.1:n.530-9051C>G | |
| XR_946616.3:n.952+90C>G | ||
| NM_001330349.2:c.618+90C>G | NP_001317278.1:n.618+90C>G | |
| NM_001330350.2:c.530-9051C>G | NP_001317279.1:n.530-9051C>G | |
| NM_013319.3:c.708C>G MANE Select | NP_037451.1:p.Asp236Glu |