Linked Data
ClinVar Variation Id:
1517939
ClinVar RCV Id:
RCV002021387
dbSNP Id:
rs907216548
gnomAD v4:
3-42685743-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42685743G>T , CM000665.2:g.42685743G>T | GRCh38 |
| NC_000003.11:g.42727235G>T , CM000665.1:g.42727235G>T | GRCh37 |
| NC_000003.10:g.42702239G>T | NCBI36 |
| NG_033035.1:g.5225G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287777.5:c.125G>T MANE Select | ENSP00000287777.4:p.Arg42Leu | |
| ENST00000287777.4:c.125G>T | ENSP00000287777.4:p.Arg42Leu | |
| NM_152393.3:c.125G>T | NP_689606.2:p.Arg42Leu | |
| XM_005264866.2:c.125G>T | XP_005264923.1:p.Arg42Leu | |
| NM_152393.4:c.125G>T MANE Select | NP_689606.2:p.Arg42Leu |