Linked Data
ClinVar Variation Id:
1358454
ClinVar RCV Id:
RCV001894222
dbSNP Id:
rs375030080
ExAC:
3:42727227 G / A
gnomAD v2:
3-42727227-G-A
gnomAD v3:
3-42685735-G-A
gnomAD v4:
3-42685735-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42685735G>A , CM000665.2:g.42685735G>A | GRCh38 |
| NC_000003.11:g.42727227G>A , CM000665.1:g.42727227G>A | GRCh37 |
| NC_000003.10:g.42702231G>A | NCBI36 |
| NG_033035.1:g.5217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287777.5:c.117G>A MANE Select | ENSP00000287777.4:p.Ala39= | |
| ENST00000287777.4:c.117G>A | ENSP00000287777.4:p.Ala39= | |
| NM_152393.3:c.117G>A | NP_689606.2:p.Ala39= | |
| XM_005264866.2:c.117G>A | XP_005264923.1:p.Ala39= | |
| NM_152393.4:c.117G>A MANE Select | NP_689606.2:p.Ala39= |