Linked Data
ClinVar Variation Id:
2428502
ClinVar RCV Id:
RCV003120103
dbSNP Id:
rs868988809
gnomAD v4:
X-154969469-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969469C>T , CM000685.2:g.154969469C>T | GRCh38 |
| NC_000023.10:g.154197744C>T , CM000685.1:g.154197744C>T | GRCh37 |
| NC_000023.9:g.153850938C>T | NCBI36 |
| NG_011403.1:g.58255G>A | |
| NG_011403.2:g.58255G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.871G>A MANE Select | ENSP00000353393.4:p.Glu291Lys | |
| ENST00000647125.1:c.*747G>A | ENSP00000496062.1:n.*747G>A | |
| ENST00000360256.8:c.871G>A | ENSP00000353393.4:p.Glu291Lys | |
| NM_000132.3:c.871G>A | NP_000123.1:p.Glu291Lys | |
| XM_011531126.1:c.766G>A | XP_011529428.1:p.Glu256Lys | |
| NM_000132.4:c.871G>A MANE Select | NP_000123.1:p.Glu291Lys |