Linked Data
ClinVar Variation Id:
651
ClinVar RCV Id:
RCV000000685
dbSNP Id:
rs118203909
gnomAD v2:
1-169510847-G-A
gnomAD v3:
1-169541609-G-A
gnomAD v4:
1-169541609-G-A
PubMed:
PMID:11564077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541609G>A , CM000663.2:g.169541609G>A | GRCh38 |
| NC_000001.10:g.169510847G>A , CM000663.1:g.169510847G>A | GRCh37 |
| NC_000001.9:g.167777471G>A | NCBI36 |
| NG_011806.1:g.49923C>T , LRG_553:g.49923C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.3481C>T MANE Select | ENSP00000356771.3:p.Arg1161Ter | |
| ENST00000367796.3:c.3496C>T | ENSP00000356770.3:p.Arg1166Ter | |
| ENST00000367797.7:c.3481C>T | ENSP00000356771.3:p.Arg1161Ter | |
| NM_000130.4:c.3481C>T , LRG_553t1:c.3481C>T | NP_000121.2:p.Arg1161Ter | |
| XM_017000660.2:c.3070C>T | XP_016856149.1:p.Arg1024Ter | |
| NM_000130.5:c.3481C>T MANE Select | NP_000121.2:p.Arg1161Ter |