Linked Data
ClinVar Variation Id:
17043
dbSNP Id:
rs121909594
ExAC:
5:39306855 G / C
gnomAD v2:
5-39306855-G-C
gnomAD v3:
5-39306753-G-C
gnomAD v4:
5-39306753-G-C
PubMed:
PMID:9634479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39306753G>C , CM000667.2:g.39306753G>C | GRCh38 |
| NC_000005.9:g.39306855G>C , CM000667.1:g.39306855G>C | GRCh37 |
| NC_000005.8:g.39342612G>C | NCBI36 |
| NG_009894.1:g.62801C>G , LRG_32:g.62801C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509186.6:c.1208C>G | ENSP00000512235.1:p.Ser403Ter | |
| ENST00000695880.1:c.1151C>G | ENSP00000512236.1:p.Ser384Ter | |
| ENST00000695881.1:c.1280C>G | ENSP00000512237.1:p.Ser427Ter | |
| ENST00000695882.1:n.507C>G | ||
| ENST00000263408.5:c.1280C>G MANE Select | ENSP00000263408.4:p.Ser427Ter | |
| ENST00000263408.4:c.1280C>G | ENSP00000263408.4:p.Ser427Ter | |
| NM_001737.3:c.1280C>G , LRG_32t1:c.1280C>G | NP_001728.1:p.Ser427Ter | |
| NM_001737.4:c.1280C>G | NP_001728.1:p.Ser427Ter | |
| NM_001737.5:c.1280C>G MANE Select | NP_001728.1:p.Ser427Ter |