Linked Data
ClinVar Variation Id:
7994
ClinVar RCV Id:
RCV000008458
dbSNP Id:
rs104894381
PubMed:
PMID:10077612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114401830C>T , CM000674.2:g.114401830C>T | GRCh38 |
| NC_000012.11:g.114839635C>T , CM000674.1:g.114839635C>T | GRCh37 |
| NC_000012.10:g.113324018C>T | NCBI36 |
| NG_007373.1:g.11613G>A , LRG_670:g.11613G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405440.7:c.238G>A MANE Select | ENSP00000384152.3:p.Gly80Arg | |
| ENST00000310346.8:c.238G>A | ENSP00000309913.4:p.Gly80Arg | |
| ENST00000349716.9:c.88G>A | ENSP00000337723.5:p.Gly30Arg | |
| ENST00000405440.6:c.238G>A | ENSP00000384152.2:p.Gly80Arg | |
| ENST00000526441.1:c.238G>A | ENSP00000433292.1:p.Gly80Arg | |
| ENST00000552726.1:n.289G>A | ||
| NM_000192.3:c.238G>A , LRG_670t1:c.238G>A | NP_000183.2:p.Gly80Arg | |
| NM_080717.2:c.88G>A | NP_542448.1:p.Gly30Arg | |
| NM_181486.2:c.238G>A | NP_852259.1:p.Gly80Arg | |
| XM_017019912.1:c.286G>A | XP_016875401.1:p.Gly96Arg | |
| NM_080717.3:c.88G>A | NP_542448.1:p.Gly30Arg | |
| NM_181486.4:c.238G>A MANE Select | NP_852259.1:p.Gly80Arg | |
| NM_080717.4:c.88G>A | NP_542448.1:p.Gly30Arg |