Linked Data
ClinVar Variation Id:
645
ClinVar RCV Id:
RCV000000679
dbSNP Id:
rs118203912
gnomAD v4:
1-169560701-C-A
PubMed:
PMID:14617013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169560701C>A , CM000663.2:g.169560701C>A | GRCh38 |
| NC_000001.10:g.169529939C>A , CM000663.1:g.169529939C>A | GRCh37 |
| NC_000001.9:g.167796563C>A | NCBI36 |
| NG_011806.1:g.30831G>T , LRG_553:g.30831G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.439G>T MANE Select | ENSP00000356771.3:p.Glu147Ter | |
| ENST00000367796.3:c.439G>T | ENSP00000356770.3:p.Glu147Ter | |
| ENST00000367797.7:c.439G>T | ENSP00000356771.3:p.Glu147Ter | |
| NM_000130.4:c.439G>T , LRG_553t1:c.439G>T | NP_000121.2:p.Glu147Ter | |
| XM_017000660.2:c.28G>T | XP_016856149.1:p.Glu10Ter | |
| NM_000130.5:c.439G>T MANE Select | NP_000121.2:p.Glu147Ter |