Linked Data
ClinVar Variation Id:
280959
dbSNP Id:
rs886042057
gnomAD v2:
14-88459314-C-G
gnomAD v3:
14-87992970-C-G
gnomAD v4:
14-87992970-C-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87992970C>G , CM000676.2:g.87992970C>G | GRCh38 |
| NC_000014.8:g.88459314C>G , CM000676.1:g.88459314C>G | GRCh37 |
| NC_000014.7:g.87529067C>G | NCBI36 |
| NG_011853.2:g.5594G>C | |
| NG_011853.3:g.5594G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.195G>C MANE Select | ENSP00000261304.2:p.Gly65= | |
| ENST00000261304.6:c.195G>C | ENSP00000261304.2:p.Gly65= | |
| ENST00000393568.8:c.195G>C | ENSP00000377198.4:p.Gly65= | |
| ENST00000393569.6:c.117+413G>C | ENSP00000377199.2:n.117+413G>C | |
| ENST00000474294.6:n.185G>C | ||
| ENST00000554372.5:c.195G>C | ENSP00000451884.1:p.Gly65= | |
| ENST00000556879.5:c.153G>C | ENSP00000452208.1:p.Gly51= | |
| ENST00000557316.5:c.195G>C | ENSP00000452314.1:p.Gly65= | |
| ENST00000622264.4:c.185G>C | ||
| NM_000153.3:c.195G>C | NP_000144.2:p.Gly65= | |
| NM_001201401.1:c.195G>C | NP_001188330.1:p.Gly65= | |
| NM_001201402.1:c.117+413G>C | NP_001188331.1:n.117+413G>C | |
| NM_000153.4:c.195G>C MANE Select | NP_000144.2:p.Gly65= | |
| NM_001201401.2:c.195G>C | NP_001188330.1:p.Gly65= | |
| NM_001201402.2:c.117+413G>C | NP_001188331.1:n.117+413G>C |