Linked Data
ClinVar Variation Id:
1951085
ClinVar RCV Id:
RCV002694941
dbSNP Id:
rs1182651820
gnomAD v4:
17-44911386-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44911386T>G , CM000679.2:g.44911386T>G | GRCh38 |
| NC_000017.10:g.42988754T>G , CM000679.1:g.42988754T>G | GRCh37 |
| NC_000017.9:g.40344280T>G | NCBI36 |
| NG_008401.1:g.9161A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253408.11:c.977A>C | ENSP00000253408.5:p.Glu326Ala | |
| ENST00000435360.8:c.977A>C | ENSP00000403962.1:p.Glu326Ala | |
| ENST00000253408.10:c.977A>C | ENSP00000253408.5:p.Glu326Ala | |
| ENST00000435360.7:c.977A>C | ENSP00000403962.1:p.Glu326Ala | |
| ENST00000585543.6:n.130A>C | ||
| ENST00000586127.6:n.1506A>C | ||
| ENST00000586793.6:c.907-65A>C | ENSP00000468500.2:n.907-65A>C | |
| ENST00000587997.6:n.453A>C | ||
| ENST00000588735.3:c.977A>C MANE Select | ENSP00000466598.2:p.Glu326Ala | |
| ENST00000591327.2:n.2131A>C | ||
| ENST00000592320.6:c.619-65A>C | ENSP00000465320.1:n.619-65A>C | |
| ENST00000638281.1:c.977A>C | ENSP00000491088.1:p.Glu326Ala | |
| ENST00000638618.1:c.632A>C | ENSP00000492832.1:p.Glu211Ala | |
| ENST00000639277.1:c.977A>C | ENSP00000492432.1:p.Glu326Ala | |
| ENST00000640552.1:n.991A>C | ||
| ENST00000253408.9:c.977A>C | ENSP00000253408.4:p.Glu326Ala | |
| ENST00000376990.8:c.*376A>C | ENSP00000366189.4:n.*376A>C | |
| ENST00000435360.6:c.977A>C | ENSP00000403962.1:p.Glu326Ala | |
| ENST00000585543.5:n.130A>C | ||
| ENST00000586793.5:c.977A>C | ENSP00000468500.1:p.Glu326Ala | |
| ENST00000587997.5:c.453A>C | ||
| ENST00000588640.5:n.357A>C | ||
| ENST00000588735.1:c.83-3270A>C | ENSP00000466598.1:n.83-3270A>C | |
| ENST00000592320.5:c.619-65A>C | ENSP00000465320.1:n.619-65A>C | |
| NM_001131019.2:c.977A>C | NP_001124491.1:p.Glu326Ala | |
| NM_001242376.1:c.977A>C | NP_001229305.1:p.Glu326Ala | |
| NM_002055.4:c.977A>C | NP_002046.1:p.Glu326Ala | |
| NM_001363846.1:c.977A>C | NP_001350775.1:p.Glu326Ala | |
| XM_024450690.1:c.1181A>C | XP_024306458.1:p.Glu394Ala | |
| XM_024450691.1:c.1181A>C | XP_024306459.1:p.Glu394Ala | |
| XM_024450692.1:c.1181A>C | XP_024306460.1:p.Glu394Ala | |
| XM_024450693.1:c.1181A>C | XP_024306461.1:p.Glu394Ala | |
| NM_002055.5:c.977A>C MANE Select | NP_002046.1:p.Glu326Ala | |
| NM_001131019.3:c.977A>C | NP_001124491.1:p.Glu326Ala | |
| NM_001242376.2:c.977A>C | NP_001229305.1:p.Glu326Ala | |
| NM_001242376.3:c.977A>C | NP_001229305.1:p.Glu326Ala | |
| NM_001363846.2:c.977A>C | NP_001350775.1:p.Glu326Ala |