Linked Data
ClinVar Variation Id:
30187
ClinVar RCV Id:
RCV000023105
dbSNP Id:
rs387906806
gnomAD v4:
3-133951305-C-T
PubMed:
PMID:22197487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133951305C>T , CM000665.2:g.133951305C>T | GRCh38 |
| NC_000003.11:g.133670149C>T , CM000665.1:g.133670149C>T | GRCh37 |
| NC_000003.10:g.135152839C>T | NCBI36 |
| NG_031964.2:g.105880G>A | |
| NG_031964.3:g.105880G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310926.11:c.764G>A MANE Select | ENSP00000311291.4:p.Gly255Glu | |
| ENST00000310926.8:c.764G>A | ENSP00000311291.4:p.Gly255Glu | |
| ENST00000462770.5:n.521-2605G>A | ||
| ENST00000464676.5:n.1026G>A | ||
| ENST00000481359.3:c.764G>A | ENSP00000420028.3:p.Gly255Glu | |
| ENST00000493729.5:c.536G>A | ENSP00000418893.1:p.Gly179Glu | |
| NM_005630.2:c.764G>A | NP_005621.2:p.Gly255Glu | |
| XM_011513090.1:c.764G>A | XP_011511392.1:p.Gly255Glu | |
| XM_017007077.1:c.260G>A | XP_016862566.1:p.Gly87Glu | |
| XM_024453721.1:c.764G>A | XP_024309489.1:p.Gly255Glu | |
| NM_005630.3:c.764G>A MANE Select | NP_005621.2:p.Gly255Glu |