Linked Data
ClinVar Variation Id:
1641914
ClinVar RCV Id:
RCV002134427
dbSNP Id:
rs367796785
gnomAD v2:
X-47433805-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574406G>C , CM000685.2:g.47574406G>C | GRCh38 |
| NC_000023.10:g.47433805G>C , CM000685.1:g.47433805G>C | GRCh37 |
| NC_000023.9:g.47318749G>C | NCBI36 |
| NG_008437.1:g.50452C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1578C>G MANE Select | ENSP00000295987.7:p.Thr526= | |
| ENST00000340666.5:c.1578C>G | ENSP00000343206.4:p.Thr526= | |
| ENST00000640721.1:c.70+282C>G | ENSP00000492857.1:n.70+282C>G | |
| ENST00000295987.11:c.1578C>G | ENSP00000295987.7:p.Thr526= | |
| ENST00000340666.4:c.1578C>G | ENSP00000343206.4:p.Thr526= | |
| NM_006950.3:c.1578C>G MANE Select | NP_008881.2:p.Thr526= | |
| NM_133499.2:c.1578C>G | NP_598006.1:p.Thr526= |