Linked Data
ClinVar Variation Id:
9755
ClinVar RCV Id:
RCV000010409
dbSNP Id:
rs104894972
PubMed:
PMID:10852465
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787320C>T , CM000686.2:g.2787320C>T | GRCh38 |
| NC_000024.9:g.2655361C>T , CM000686.1:g.2655361C>T | GRCh37 |
| NC_000024.8:g.2715361C>T | NCBI36 |
| NG_011751.1:g.5432G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+12581C>T | ||
| ENST00000679825.1:n.432C>T | ||
| ENST00000680285.1:n.320-2429C>T | ||
| ENST00000680845.1:n.166-160C>T | ||
| ENST00000681787.1:n.106+12581C>T | ||
| ENST00000681940.1:n.106+12581C>T | ||
| ENST00000383070.2:c.284G>A MANE Select | ENSP00000372547.1:p.Gly95Glu | |
| ENST00000383070.1:c.284G>A | ENSP00000372547.1:p.Gly95Glu | |
| NM_003140.2:c.284G>A | NP_003131.1:p.Gly95Glu | |
| NM_003140.3:c.284G>A MANE Select | NP_003131.1:p.Gly95Glu |