Linked Data
ClinVar Variation Id:
474338
ClinVar RCV Id:
RCV000547383
dbSNP Id:
rs1437347386
gnomAD v2:
3-42727191-G-A
gnomAD v3:
3-42685699-G-A
gnomAD v4:
3-42685699-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42685699G>A , CM000665.2:g.42685699G>A | GRCh38 |
| NC_000003.11:g.42727191G>A , CM000665.1:g.42727191G>A | GRCh37 |
| NC_000003.10:g.42702195G>A | NCBI36 |
| NG_033035.1:g.5181G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287777.5:c.81G>A MANE Select | ENSP00000287777.4:p.Leu27= | |
| ENST00000287777.4:c.81G>A | ENSP00000287777.4:p.Leu27= | |
| NM_152393.3:c.81G>A | NP_689606.2:p.Leu27= | |
| XM_005264866.2:c.81G>A | XP_005264923.1:p.Leu27= | |
| NM_152393.4:c.81G>A MANE Select | NP_689606.2:p.Leu27= |