Linked Data
ClinVar Variation Id:
872833
ClinVar RCV Id:
RCV001093505
dbSNP Id:
rs1876625601
ERepo:
CA16020782/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877523T>C , CM000674.2:g.102877523T>C | GRCh38 |
| NC_000012.11:g.103271301T>C , CM000674.1:g.103271301T>C | GRCh37 |
| NC_000012.10:g.101795431T>C | NCBI36 |
| NG_008690.1:g.45080A>G | |
| NG_008690.2:g.85888A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.380A>G MANE Select | ENSP00000448059.1:p.Glu127Gly | |
| ENST00000307000.7:c.365A>G | ENSP00000303500.2:p.Glu122Gly | |
| ENST00000549111.5:n.476A>G | ||
| ENST00000550978.6:c.364A>G | ||
| ENST00000551337.5:c.380A>G | ENSP00000447620.1:p.Glu127Gly | |
| ENST00000551988.5:n.469A>G | ||
| ENST00000553106.5:c.380A>G | ENSP00000448059.1:p.Glu127Gly | |
| NM_000277.1:c.380A>G | NP_000268.1:p.Glu127Gly | |
| XM_011538422.1:c.380A>G | XP_011536724.1:p.Glu127Gly | |
| NM_000277.2:c.380A>G | NP_000268.1:p.Glu127Gly | |
| NM_001354304.1:c.380A>G | NP_001341233.1:p.Glu127Gly | |
| XM_017019370.2:c.380A>G | XP_016874859.1:p.Glu127Gly | |
| NM_000277.3:c.380A>G MANE Select | NP_000268.1:p.Glu127Gly | |
| NM_001354304.2:c.380A>G | NP_001341233.1:p.Glu127Gly |