Linked Data
ClinVar Variation Id:
1520953
ClinVar RCV Id:
RCV002046200
dbSNP Id:
rs111033580
gnomAD v4:
11-118340447-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118340447G>C , CM000673.2:g.118340447G>C | GRCh38 |
| NC_000011.9:g.118211162G>C , CM000673.1:g.118211162G>C | GRCh37 |
| NC_000011.8:g.117716372G>C | NCBI36 |
| NG_007566.1:g.1104G>C , LRG_39:g.1104G>C | |
| NG_009891.1:g.7298C>G , LRG_37:g.7298C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695666.1:n.221C>G | ||
| ENST00000695667.1:n.207C>G | ||
| ENST00000695668.1:n.2187C>G | ||
| ENST00000300692.9:c.202C>G MANE Select | ENSP00000300692.4:p.Arg68Gly | |
| ENST00000300692.8:c.202C>G | ENSP00000300692.4:p.Arg68Gly | |
| ENST00000392884.2:c.202C>G | ENSP00000376622.2:p.Arg68Gly | |
| ENST00000526561.1:n.80-953C>G | ||
| ENST00000529594.5:c.56-541C>G | ENSP00000437335.1:n.56-541C>G | |
| ENST00000534687.5:c.215C>G | ||
| NM_000732.4:c.202C>G , LRG_37t1:c.202C>G | NP_000723.1:p.Arg68Gly | |
| NM_001040651.1:c.202C>G | NP_001035741.1:p.Arg68Gly | |
| NM_001040651.2:c.202C>G | NP_001035741.1:p.Arg68Gly | |
| NM_000732.6:c.202C>G MANE Select | NP_000723.1:p.Arg68Gly |