Linked Data
ClinVar Variation Id:
293622
ClinVar RCV Id:
RCV000284956
dbSNP Id:
rs757953549
gnomAD v4:
1-169542872-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169542872G>A , CM000663.2:g.169542872G>A | GRCh38 |
| NC_000001.10:g.169512110G>A , CM000663.1:g.169512110G>A | GRCh37 |
| NC_000001.9:g.167778734G>A | NCBI36 |
| NG_011806.1:g.48660C>T , LRG_553:g.48660C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.2218C>T MANE Select | ENSP00000356771.3:p.Arg740Ter | |
| ENST00000367796.3:c.2233C>T | ENSP00000356770.3:p.Arg745Ter | |
| ENST00000367797.7:c.2218C>T | ENSP00000356771.3:p.Arg740Ter | |
| NM_000130.4:c.2218C>T , LRG_553t1:c.2218C>T | NP_000121.2:p.Arg740Ter | |
| XM_017000660.2:c.1807C>T | XP_016856149.1:p.Arg603Ter | |
| NM_000130.5:c.2218C>T MANE Select | NP_000121.2:p.Arg740Ter |