Linked Data
ClinVar Variation Id:
1807564
ClinVar RCV Id:
RCV002475521
dbSNP Id:
rs1214029838
gnomAD v3:
19-53900241-G-A
gnomAD v4:
19-53900241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53900241G>A , CM000681.2:g.53900241G>A | GRCh38 |
| NC_000019.9:g.54403495G>A , CM000681.1:g.54403495G>A | GRCh37 |
| NC_000019.8:g.59095307G>A | NCBI36 |
| NG_009114.1:g.23029G>A , LRG_669:g.23029G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1290G>A | ENSP00000507230.1:p.Leu430= | |
| ENST00000682268.1:n.1588G>A | ||
| ENST00000682676.1:n.691G>A | ||
| ENST00000682902.1:n.1592G>A | ||
| ENST00000683513.1:c.1290G>A | ENSP00000506809.1:p.Leu430= | |
| ENST00000263431.4:c.1290G>A MANE Select | ENSP00000263431.3:p.Leu430= | |
| ENST00000263431.3:c.1290G>A | ENSP00000263431.3:p.Leu430= | |
| NM_001316329.1:c.1290G>A | NP_001303258.1:p.Leu430= | |
| NM_002739.3:c.1290G>A , LRG_669t1:c.1290G>A | NP_002730.1:p.Leu430= | |
| NM_002739.4:c.1290G>A | NP_002730.1:p.Leu430= | |
| XM_011527108.1:c.381G>A | XP_011525410.1:p.Leu127= | |
| NM_002739.5:c.1290G>A MANE Select | NP_002730.1:p.Leu430= | |
| NM_001316329.2:c.1290G>A | NP_001303258.1:p.Leu430= |