Linked Data
ClinVar Variation Id:
467815
ClinVar RCV Id:
RCV000540552
dbSNP Id:
rs1555887907
COSMIC:
COSM1722695
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725433G>A , CM000682.2:g.46725433G>A | GRCh38 |
| NC_000020.10:g.45354072G>A , CM000682.1:g.45354072G>A | GRCh37 |
| NC_000020.9:g.44787479G>A | NCBI36 |
| NG_016284.1:g.20794G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359271.4:c.397G>A MANE Select | ENSP00000352216.2:p.Gly133Arg | |
| ENST00000359271.3:c.397G>A | ENSP00000352216.2:p.Gly133Arg | |
| ENST00000611837.1:n.549G>A | ||
| NM_030777.3:c.397G>A | NP_110404.1:p.Gly133Arg | |
| XM_011529060.1:c.460G>A | XP_011527362.1:p.Gly154Arg | |
| XM_011529061.1:c.406G>A | XP_011527363.1:p.Gly136Arg | |
| XM_011529062.1:c.460G>A | XP_011527364.1:p.Gly154Arg | |
| XM_011529063.1:c.460G>A | XP_011527365.1:p.Gly154Arg | |
| XM_011529064.1:c.460G>A | XP_011527366.1:p.Gly154Arg | |
| XM_011529065.1:c.460G>A | XP_011527367.1:p.Gly154Arg | |
| XR_936641.1:n.596G>A | ||
| XM_011529060.2:c.460G>A | XP_011527362.1:p.Gly154Arg | |
| XM_011529061.2:c.406G>A | XP_011527363.1:p.Gly136Arg | |
| XM_011529062.2:c.460G>A | XP_011527364.1:p.Gly154Arg | |
| XM_011529063.2:c.460G>A | XP_011527365.1:p.Gly154Arg | |
| XM_011529064.2:c.460G>A | XP_011527366.1:p.Gly154Arg | |
| XM_011529065.2:c.460G>A | XP_011527367.1:p.Gly154Arg | |
| XM_017028087.2:c.397G>A | XP_016883576.1:p.Gly133Arg | |
| XR_936641.2:n.583G>A | ||
| NM_030777.4:c.397G>A MANE Select | NP_110404.1:p.Gly133Arg |