Linked Data
ClinVar Variation Id:
82
ClinVar RCV Id:
RCV000000102
dbSNP Id:
rs121965087
gnomAD v4:
10-89245776-G-C
PubMed:
PMID:8956047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89245776G>C , CM000672.2:g.89245776G>C | GRCh38 |
| NC_000010.10:g.91005533G>C , CM000672.1:g.91005533G>C | GRCh37 |
| NC_000010.9:g.90995513G>C | NCBI36 |
| NG_008194.1:g.11128C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336233.10:c.129C>G MANE Select | ENSP00000337354.5:p.Tyr43Ter | |
| ENST00000282673.5:c.129C>G | ENSP00000282673.4:p.Tyr43Ter | |
| ENST00000336233.9:c.129C>G | ENSP00000337354.5:p.Tyr43Ter | |
| ENST00000371837.5:c.62-17378C>G | ENSP00000360903.1:n.62-17378C>G | |
| ENST00000428800.5:c.129C>G | ENSP00000388415.1:p.Tyr43Ter | |
| ENST00000456827.5:c.-120+5961C>G | ENSP00000413019.2:n.-120+5961C>G | |
| NM_000235.3:c.129C>G | NP_000226.2:p.Tyr43Ter | |
| NM_001127605.2:c.129C>G | NP_001121077.1:p.Tyr43Ter | |
| NM_001288979.1:c.-120+5961C>G | NP_001275908.1:n.-120+5961C>G | |
| XM_024448023.1:c.129C>G | XP_024303791.1:p.Tyr43Ter | |
| NM_000235.4:c.129C>G MANE Select | NP_000226.2:p.Tyr43Ter | |
| NM_001127605.3:c.129C>G | NP_001121077.1:p.Tyr43Ter | |
| NM_001288979.2:c.-120+5961C>G | NP_001275908.1:n.-120+5961C>G |