Linked Data
ClinVar Variation Id:
64508
ClinVar RCV Id:
RCV000054695
dbSNP Id:
rs387907519
COSMIC:
COSM4762552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151071739G>T , CM000669.2:g.151071739G>T | GRCh38 |
| NC_000007.13:g.150768826G>T , CM000669.1:g.150768826G>T | GRCh37 |
| NC_000007.12:g.150399759G>T | NCBI36 |
| NG_051947.1:g.18540G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413384.7:c.2242G>T MANE Select | ENSP00000405600.2:p.Ala748Ser | |
| ENST00000677246.1:c.2242G>T | ENSP00000504447.1:p.Ala748Ser | |
| ENST00000310317.9:c.1996G>T | ENSP00000311402.5:p.Ala666Ser | |
| ENST00000392826.6:c.2215G>T | ENSP00000376571.2:p.Ala739Ser | |
| ENST00000413384.6:c.2242G>T | ENSP00000405600.2:p.Ala748Ser | |
| ENST00000460010.1:n.75G>T | ||
| ENST00000461735.1:c.2200G>T | ENSP00000419164.1:p.Ala734Ser | |
| ENST00000482697.1:n.11G>T | ||
| ENST00000485713.5:c.2242G>T | ENSP00000419412.1:p.Ala748Ser | |
| ENST00000493040.5:n.263G>T | ||
| NM_001199692.1:c.2242G>T | NP_001186621.1:p.Ala748Ser | |
| NM_001199693.1:c.2215G>T | NP_001186622.1:p.Ala739Ser | |
| NM_001199694.1:c.2200G>T | NP_001186623.1:p.Ala734Ser | |
| NM_003040.3:c.2242G>T | NP_003031.3:p.Ala748Ser | |
| XM_011516497.1:c.2242G>T | XP_011514799.1:p.Ala748Ser | |
| NM_001199692.2:c.2242G>T | NP_001186621.1:p.Ala748Ser | |
| NM_001199694.2:c.2200G>T | NP_001186623.1:p.Ala734Ser | |
| NM_003040.4:c.2242G>T MANE Select | NP_003031.3:p.Ala748Ser | |
| NM_001199692.3:c.2242G>T | NP_001186621.1:p.Ala748Ser |