Linked Data
ClinVar Variation Id:
16179
ClinVar RCV Id:
RCV000017562
dbSNP Id:
rs121909720
gnomAD v4:
17-44915253-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44915253G>T , CM000679.2:g.44915253G>T | GRCh38 |
| NC_000017.10:g.42992621G>T , CM000679.1:g.42992621G>T | GRCh37 |
| NC_000017.9:g.40348147G>T | NCBI36 |
| NG_008401.1:g.5294C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253408.11:c.234C>A | ENSP00000253408.5:p.Asp78Glu | |
| ENST00000435360.8:c.234C>A | ENSP00000403962.1:p.Asp78Glu | |
| ENST00000253408.10:c.234C>A | ENSP00000253408.5:p.Asp78Glu | |
| ENST00000435360.7:c.234C>A | ENSP00000403962.1:p.Asp78Glu | |
| ENST00000586793.6:c.234C>A | ENSP00000468500.2:p.Asp78Glu | |
| ENST00000588735.3:c.234C>A MANE Select | ENSP00000466598.2:p.Asp78Glu | |
| ENST00000591327.2:n.247C>A | ||
| ENST00000592320.6:c.234C>A | ENSP00000465320.1:p.Asp78Glu | |
| ENST00000638281.1:c.234C>A | ENSP00000491088.1:p.Asp78Glu | |
| ENST00000639277.1:c.234C>A | ENSP00000492432.1:p.Asp78Glu | |
| ENST00000640552.1:n.248C>A | ||
| ENST00000253408.9:c.234C>A | ENSP00000253408.4:p.Asp78Glu | |
| ENST00000376990.8:c.234C>A | ENSP00000366189.4:p.Asp78Glu | |
| ENST00000435360.6:c.234C>A | ENSP00000403962.1:p.Asp78Glu | |
| ENST00000585728.5:c.181+53C>A | ENSP00000465208.1:n.181+53C>A | |
| ENST00000586793.5:c.234C>A | ENSP00000468500.1:p.Asp78Glu | |
| ENST00000588037.1:c.234C>A | ENSP00000466163.1:p.Asp78Glu | |
| ENST00000588316.1:c.234C>A | ENSP00000465629.1:p.Asp78Glu | |
| ENST00000588735.1:c.82+152C>A | ENSP00000466598.1:n.82+152C>A | |
| ENST00000588957.5:c.-272+564C>A | ENSP00000465565.1:n.-272+564C>A | |
| ENST00000591327.1:n.248C>A | ||
| ENST00000592320.5:c.234C>A | ENSP00000465320.1:p.Asp78Glu | |
| NM_001131019.2:c.234C>A | NP_001124491.1:p.Asp78Glu | |
| NM_001242376.1:c.234C>A | NP_001229305.1:p.Asp78Glu | |
| NM_002055.4:c.234C>A | NP_002046.1:p.Asp78Glu | |
| NM_001363846.1:c.234C>A | NP_001350775.1:p.Asp78Glu | |
| XM_024450690.1:c.234C>A | XP_024306458.1:p.Asp78Glu | |
| XM_024450691.1:c.234C>A | XP_024306459.1:p.Asp78Glu | |
| XM_024450692.1:c.234C>A | XP_024306460.1:p.Asp78Glu | |
| XM_024450693.1:c.234C>A | XP_024306461.1:p.Asp78Glu | |
| NM_002055.5:c.234C>A MANE Select | NP_002046.1:p.Asp78Glu | |
| NM_001131019.3:c.234C>A | NP_001124491.1:p.Asp78Glu | |
| NM_001242376.2:c.234C>A | NP_001229305.1:p.Asp78Glu | |
| NM_001242376.3:c.234C>A | NP_001229305.1:p.Asp78Glu | |
| NM_001363846.2:c.234C>A | NP_001350775.1:p.Asp78Glu |