Linked Data
ClinVar Variation Id:
430026
dbSNP Id:
rs1131691743
gnomAD v3:
X-153726027-C-T
gnomAD v4:
X-153726027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726027C>T , CM000685.2:g.153726027C>T | GRCh38 |
| NC_000023.10:g.152991482C>T , CM000685.1:g.152991482C>T | GRCh37 |
| NC_000023.9:g.152644676C>T | NCBI36 |
| NG_009022.2:g.6160C>T | |
| NG_023231.1:g.3720G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218104.6:c.761C>T MANE Select | ENSP00000218104.3:p.Thr254Met | |
| ENST00000218104.5:c.761C>T | ENSP00000218104.3:p.Thr254Met | |
| ENST00000370129.4:c.206C>T | ENSP00000359147.3:p.Thr69Met | |
| NM_000033.3:c.761C>T | NP_000024.2:p.Thr254Met | |
| XR_938507.1:n.1177C>T | ||
| XR_938507.2:n.1177C>T | ||
| NM_000033.4:c.761C>T MANE Select | NP_000024.2:p.Thr254Met |