Linked Data
ClinVar Variation Id:
446492
ClinVar RCV Id:
RCV000515759
dbSNP Id:
rs1555661648
PubMed:
PMID:29437797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26862297C>G , CM000680.2:g.26862297C>G | GRCh38 |
| NC_000018.9:g.24442261C>G , CM000680.1:g.24442261C>G | GRCh37 |
| NC_000018.8:g.22696259C>G | NCBI36 |
| NG_029560.1:g.8456G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383168.9:c.332G>C MANE Select | ENSP00000372654.4:p.Ser111Thr | |
| ENST00000672188.1:c.332G>C | ENSP00000500720.1:p.Ser111Thr | |
| ENST00000672981.2:c.332G>C | ENSP00000500598.2:p.Ser111Thr | |
| ENST00000675739.1:c.332G>C | ENSP00000502364.1:p.Ser111Thr | |
| ENST00000383168.8:c.332G>C | ENSP00000372654.4:p.Ser111Thr | |
| ENST00000383170.3:c.*31G>C | ENSP00000372656.3:n.*31G>C | |
| ENST00000440832.7:c.266G>C | ENSP00000393121.3:p.Ser89Thr | |
| ENST00000578776.1:c.209G>C | ENSP00000462075.1:p.Ser70Thr | |
| ENST00000581374.5:c.266G>C | ENSP00000462597.1:p.Ser89Thr | |
| ENST00000584088.1:n.110G>C | ||
| ENST00000622234.4:c.332G>C | ENSP00000484446.1:p.Ser111Thr | |
| NM_001650.4:c.332G>C | NP_001641.1:p.Ser111Thr | |
| NM_004028.3:c.266G>C | NP_004019.1:p.Ser89Thr | |
| XM_011525942.1:c.311G>C | XP_011524244.1:p.Ser104Thr | |
| NM_001317384.2:c.332G>C | NP_001304313.1:p.Ser111Thr | |
| NM_001317387.2:c.332G>C | NP_001304316.1:p.Ser111Thr | |
| NM_001364286.1:c.266G>C | NP_001351215.1:p.Ser89Thr | |
| NM_001364287.1:c.266G>C | NP_001351216.1:p.Ser89Thr | |
| NM_001364289.1:c.266G>C | NP_001351218.1:p.Ser89Thr | |
| NM_001650.6:c.332G>C | NP_001641.1:p.Ser111Thr | |
| NM_004028.4:c.266G>C | NP_004019.1:p.Ser89Thr | |
| XM_011525942.3:c.311G>C | XP_011524244.1:p.Ser104Thr | |
| NM_001650.7:c.332G>C MANE Select | NP_001641.1:p.Ser111Thr | |
| NM_001317384.3:c.332G>C | NP_001304313.1:p.Ser111Thr | |
| NM_001317387.3:c.332G>C | NP_001304316.1:p.Ser111Thr | |
| NM_001364289.2:c.266G>C | NP_001351218.1:p.Ser89Thr | |
| NM_004028.5:c.266G>C | NP_004019.1:p.Ser89Thr |