Linked Data
ClinVar Variation Id:
813591
dbSNP Id:
rs942598979
gnomAD v3:
17-75522080-C-A
gnomAD v4:
17-75522080-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75522080C>A , CM000679.2:g.75522080C>A | GRCh38 |
| NC_000017.10:g.73518161C>A , CM000679.1:g.73518161C>A | GRCh37 |
| NC_000017.9:g.71029756C>A | NCBI36 |
| NG_013041.1:g.10553C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.999C>A MANE Select | ENSP00000327487.6:p.Asp333Glu | |
| ENST00000434205.8:c.696C>A | ENSP00000406559.4:p.Asp232Glu | |
| ENST00000545228.3:c.999C>A | ENSP00000438169.3:p.Asp333Glu | |
| ENST00000579449.2:n.798C>A | ||
| ENST00000580013.6:n.1202C>A | ||
| ENST00000679370.1:n.1580C>A | ||
| ENST00000679429.1:c.*457C>A | ENSP00000505403.1:n.*457C>A | |
| ENST00000679443.1:n.1068C>A | ||
| ENST00000679782.1:c.999C>A | ENSP00000505995.1:p.Asp333Glu | |
| ENST00000679919.1:n.1068C>A | ||
| ENST00000679928.1:c.*610C>A | ENSP00000506071.1:n.*610C>A | |
| ENST00000680528.1:n.1024C>A | ||
| ENST00000680999.1:c.999C>A | ENSP00000504984.1:p.Asp333Glu | |
| ENST00000681282.1:c.*245C>A | ENSP00000506339.1:n.*245C>A | |
| ENST00000333213.10:c.999C>A | ENSP00000327487.6:p.Asp333Glu | |
| ENST00000545228.2:c.88C>A | ||
| ENST00000578415.1:c.959C>A | ||
| ENST00000583173.5:c.532C>A | ENSP00000463619.1:p.Arg178Ser | |
| NM_207346.2:c.999C>A | NP_997229.2:p.Asp333Glu | |
| XM_005257229.2:c.999C>A | XP_005257286.1:p.Asp333Glu | |
| XM_006721821.2:c.696C>A | XP_006721884.1:p.Asp232Glu | |
| XM_011524616.1:c.999C>A | XP_011522918.1:p.Asp333Glu | |
| XM_011524617.1:c.999C>A | XP_011522919.1:p.Asp333Glu | |
| XM_011524618.1:c.999C>A | XP_011522920.1:p.Asp333Glu | |
| XR_243646.2:n.1029C>A | ||
| XM_005257229.4:c.999C>A | XP_005257286.1:p.Asp333Glu | |
| XR_243646.4:n.1035C>A | ||
| NM_207346.3:c.999C>A MANE Select | NP_997229.2:p.Asp333Glu |