Linked Data
ClinVar Variation Id:
2153
ClinVar RCV Id:
RCV000002236
dbSNP Id:
rs28940308
PubMed:
PMID:12851857
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18079908G>A , CM000684.2:g.18079908G>A | GRCh38 |
| NC_000022.10:g.18562674G>A , CM000684.1:g.18562674G>A | GRCh37 |
| NC_000022.9:g.16942674G>A | NCBI36 |
| NG_008339.1:g.6989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.265G>A MANE Select | ENSP00000382648.4:p.Gly89Arg | |
| ENST00000474897.6:c.265G>A | ENSP00000434235.2:p.Gly89Arg | |
| ENST00000329627.11:c.265G>A | ENSP00000331106.5:p.Gly89Arg | |
| ENST00000399744.7:c.265G>A | ENSP00000382648.3:p.Gly89Arg | |
| ENST00000428061.2:c.265G>A | ENSP00000412441.2:p.Gly89Arg | |
| ENST00000474897.5:c.265G>A | ENSP00000434235.1:p.Gly89Arg | |
| ENST00000610387.4:c.265G>A | ENSP00000482091.1:p.Gly89Arg | |
| NM_001127649.2:c.265G>A | NP_001121121.1:p.Gly89Arg | |
| NM_001199319.1:c.265G>A | NP_001186248.1:p.Gly89Arg | |
| NM_017929.5:c.265G>A | NP_060399.1:p.Gly89Arg | |
| NM_001127649.3:c.265G>A MANE Select | NP_001121121.1:p.Gly89Arg | |
| NM_001199319.2:c.265G>A | NP_001186248.1:p.Gly89Arg | |
| NM_017929.6:c.265G>A | NP_060399.1:p.Gly89Arg |