Linked Data
ClinVar Variation Id:
953901
ClinVar RCV Id:
RCV001226263
dbSNP Id:
rs1463805707
gnomAD v2:
11-8111699-C-A
gnomAD v3:
11-8090152-C-A
gnomAD v4:
11-8090152-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090152C>A , CM000673.2:g.8090152C>A | GRCh38 |
| NC_000011.9:g.8111699C>A , CM000673.1:g.8111699C>A | GRCh37 |
| NC_000011.8:g.8068275C>A | NCBI36 |
| NG_029912.1:g.56520C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.174C>A MANE Select | ENSP00000299506.3:p.Ser58Arg | |
| ENST00000299506.2:c.174C>A | ENSP00000299506.2:p.Ser58Arg | |
| ENST00000305253.8:c.339C>A | ENSP00000305426.4:p.Ser113Arg | |
| ENST00000534099.5:c.192C>A | ENSP00000434400.1:p.Ser64Arg | |
| NM_003320.4:c.339C>A | NP_003311.2:p.Ser113Arg | |
| NM_177972.2:c.174C>A | NP_813977.1:p.Ser58Arg | |
| XM_005253109.2:c.300C>A | XP_005253166.1:p.Ser100Arg | |
| XM_011520344.1:c.210C>A | XP_011518646.1:p.Ser70Arg | |
| XM_005253109.3:c.300C>A | XP_005253166.1:p.Ser100Arg | |
| XM_011520344.2:c.210C>A | XP_011518646.1:p.Ser70Arg | |
| NM_177972.3:c.174C>A MANE Select | NP_813977.1:p.Ser58Arg | |
| NM_003320.5:c.339C>A | NP_003311.2:p.Ser113Arg |