Linked Data
ClinVar Variation Id:
845112
ClinVar RCV Id:
RCV001048114
dbSNP Id:
rs759817120
ExAC:
3:42727250 A / T
gnomAD v2:
3-42727250-A-T
gnomAD v4:
3-42685758-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42685758A>T , CM000665.2:g.42685758A>T | GRCh38 |
| NC_000003.11:g.42727250A>T , CM000665.1:g.42727250A>T | GRCh37 |
| NC_000003.10:g.42702254A>T | NCBI36 |
| NG_033035.1:g.5240A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287777.5:c.140A>T MANE Select | ENSP00000287777.4:p.His47Leu | |
| ENST00000287777.4:c.140A>T | ENSP00000287777.4:p.His47Leu | |
| NM_152393.3:c.140A>T | NP_689606.2:p.His47Leu | |
| XM_005264866.2:c.140A>T | XP_005264923.1:p.His47Leu | |
| NM_152393.4:c.140A>T MANE Select | NP_689606.2:p.His47Leu |