Linked Data
ClinVar Variation Id:
1400550
ClinVar RCV Id:
RCV001896698
dbSNP Id:
rs559626481
gnomAD v2:
16-56938313-C-A
gnomAD v3:
16-56904401-C-A
gnomAD v4:
16-56904401-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56904401C>A , CM000678.2:g.56904401C>A | GRCh38 |
| NC_000016.9:g.56938313C>A , CM000678.1:g.56938313C>A | GRCh37 |
| NC_000016.8:g.55495814C>A | NCBI36 |
| NG_009386.1:g.44195C>A | |
| NG_009386.2:g.44195C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.2863C>A MANE Select | ENSP00000456149.2:p.Arg955= | |
| ENST00000262502.5:c.2860C>A | ENSP00000262502.5:p.Arg954= | |
| ENST00000438926.6:c.2890C>A | ENSP00000402152.2:p.Arg964= | |
| ENST00000563236.5:c.2863C>A | ENSP00000456149.1:p.Arg955= | |
| ENST00000566786.5:c.2887C>A | ENSP00000457552.1:p.Arg963= | |
| ENST00000569002.1:n.294C>A | ||
| NM_000339.2:c.2890C>A | NP_000330.2:p.Arg964= | |
| NM_001126107.1:c.2887C>A | NP_001119579.1:p.Arg963= | |
| NM_001126108.1:c.2863C>A | NP_001119580.1:p.Arg955= | |
| XM_005256119.1:c.2860C>A | XP_005256176.1:p.Arg954= | |
| XM_005256119.2:c.2860C>A | XP_005256176.1:p.Arg954= | |
| NM_000339.3:c.2890C>A | NP_000330.3:p.Arg964= | |
| NM_001126107.2:c.2887C>A | NP_001119579.2:p.Arg963= | |
| NM_001126108.2:c.2863C>A MANE Select | NP_001119580.2:p.Arg955= |