Linked Data
ClinVar Variation Id:
30403
ClinVar RCV Id:
RCV000023356
dbSNP Id:
rs879253726
PubMed:
PMID:22305528
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44853364G>T , CM000679.2:g.44853364G>T | GRCh38 |
| NC_000017.10:g.42930732G>T , CM000679.1:g.42930732G>T | GRCh37 |
| NC_000017.9:g.40286258G>T | NCBI36 |
| NG_032674.1:g.51262C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426333.7:c.2493C>A MANE Select | ENSP00000392094.1:p.Tyr831Ter | |
| ENST00000402521.7:c.2388C>A | ENSP00000385873.2:p.Tyr796Ter | |
| ENST00000426333.6:c.2493C>A | ENSP00000392094.1:p.Tyr831Ter | |
| ENST00000586276.5:n.2788C>A | ||
| ENST00000589769.1:c.314+153C>A | ||
| ENST00000590124.5:c.468+153C>A | ENSP00000467249.1:n.468+153C>A | |
| ENST00000590367.5:n.2854C>A | ||
| ENST00000590977.5:n.1707+153C>A | ||
| ENST00000591382.5:c.2493C>A | ENSP00000467805.1:p.Tyr831Ter | |
| ENST00000592576.5:c.2463C>A | ENSP00000465058.1:p.Tyr821Ter | |
| NM_001142605.1:c.2388C>A | NP_001136077.1:p.Tyr796Ter | |
| NM_001258353.1:c.2493C>A | NP_001245282.1:p.Tyr831Ter | |
| NM_001258354.1:c.2463C>A | NP_001245283.1:p.Tyr821Ter | |
| NM_004247.3:c.2493C>A | NP_004238.3:p.Tyr831Ter | |
| XR_934602.1:n.2551+153C>A | ||
| XR_934602.3:n.2547+153C>A | ||
| NM_004247.4:c.2493C>A MANE Select | NP_004238.3:p.Tyr831Ter | |
| NM_001142605.2:c.2388C>A | NP_001136077.1:p.Tyr796Ter | |
| NM_001258353.2:c.2493C>A | NP_001245282.1:p.Tyr831Ter | |
| NM_001258354.2:c.2463C>A | NP_001245283.1:p.Tyr821Ter |