Linked Data
ClinVar Variation Id:
572938
ClinVar RCV Id:
RCV000694460
dbSNP Id:
rs371000425
gnomAD v2:
19-55666173-C-A
gnomAD v4:
19-55154805-C-A
COSMIC:
COSM713518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154805C>A , CM000681.2:g.55154805C>A | GRCh38 |
| NC_000019.9:g.55666173C>A , CM000681.1:g.55666173C>A | GRCh37 |
| NC_000019.8:g.60357985C>A | NCBI36 |
| NG_007866.2:g.7928G>T , LRG_432:g.7928G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.308G>T MANE Select | ENSP00000341838.5:p.Arg103Leu | |
| ENST00000665070.1:c.308G>T | ENSP00000499482.1:p.Arg103Leu | |
| ENST00000344887.9:c.308G>T | ENSP00000341838.5:p.Arg103Leu | |
| ENST00000585806.5:n.307G>T | ||
| ENST00000586669.5:n.316G>T | ||
| ENST00000587176.5:n.492G>T | ||
| ENST00000587871.1:c.927G>T | ||
| ENST00000588882.1:c.233G>T | ENSP00000466729.1:p.Arg78Leu | |
| ENST00000590463.1:n.480G>T | ||
| NM_000363.4:c.308G>T , LRG_432t1:c.308G>T | NP_000354.4:p.Arg103Leu | |
| NM_000363.5:c.308G>T MANE Select | NP_000354.4:p.Arg103Leu |