Linked Data
ClinVar Variation Id:
434063
dbSNP Id:
rs781900720
ExAC:
X:152990761 A / G
gnomAD v2:
X-152990761-A-G
gnomAD v3:
X-153725306-A-G
gnomAD v4:
X-153725306-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725306A>G , CM000685.2:g.153725306A>G | GRCh38 |
| NC_000023.10:g.152990761A>G , CM000685.1:g.152990761A>G | GRCh37 |
| NC_000023.9:g.152643955A>G | NCBI36 |
| NG_009022.2:g.5439A>G | |
| NG_023231.1:g.4441T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.40A>G MANE Select | ENSP00000218104.3:p.Thr14Ala | |
| ENST00000218104.5:c.40A>G | ENSP00000218104.3:p.Thr14Ala | |
| NM_000033.3:c.40A>G | NP_000024.2:p.Thr14Ala | |
| XR_938507.1:n.456A>G | ||
| XR_938507.2:n.456A>G | ||
| NM_000033.4:c.40A>G MANE Select | NP_000024.2:p.Thr14Ala |