Linked Data
ClinVar Variation Id:
225136
ClinVar RCV Id:
RCV000210788
dbSNP Id:
rs869312997
gnomAD v4:
12-102843673-C-G
ERepo:
CA357240/MONDO:0009861/006
PubMed:
PMID:24078561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843673C>G , CM000674.2:g.102843673C>G | GRCh38 |
| NC_000012.11:g.103237451C>G , CM000674.1:g.103237451C>G | GRCh37 |
| NC_000012.10:g.101761581C>G | NCBI36 |
| NG_008690.1:g.78930G>C | |
| NG_008690.2:g.119738G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1172G>C MANE Select | ENSP00000448059.1:p.Ser391Thr | |
| ENST00000307000.7:c.1157G>C | ENSP00000303500.2:p.Ser386Thr | |
| ENST00000549247.6:n.931G>C | ||
| ENST00000551114.2:n.834G>C | ||
| ENST00000553106.5:c.1172G>C | ENSP00000448059.1:p.Ser391Thr | |
| ENST00000635477.1:c.276G>C | ||
| ENST00000635528.1:n.687G>C | ||
| NM_000277.1:c.1172G>C | NP_000268.1:p.Ser391Thr | |
| XM_011538422.1:c.1115G>C | XP_011536724.1:p.Ser372Thr | |
| NM_000277.2:c.1172G>C | NP_000268.1:p.Ser391Thr | |
| NM_001354304.1:c.1172G>C | NP_001341233.1:p.Ser391Thr | |
| NM_000277.3:c.1172G>C MANE Select | NP_000268.1:p.Ser391Thr | |
| NM_001354304.2:c.1172G>C | NP_001341233.1:p.Ser391Thr |