Linked Data
ClinVar Variation Id:
987508
ClinVar RCV Id:
RCV001268921
dbSNP Id:
rs2091764492
gnomAD v4:
X-153740609-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740609T>G , CM000685.2:g.153740609T>G | GRCh38 |
| NC_000023.10:g.153006063T>G , CM000685.1:g.153006063T>G | GRCh37 |
| NC_000023.9:g.152659257T>G | NCBI36 |
| NG_009022.2:g.20742T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1670T>G MANE Select | ENSP00000218104.3:p.Val557Gly | |
| ENST00000218104.5:c.1670T>G | ENSP00000218104.3:p.Val557Gly | |
| NM_000033.3:c.1670T>G | NP_000024.2:p.Val557Gly | |
| XR_938507.1:n.2142T>G | ||
| XR_938507.2:n.2142T>G | ||
| NM_000033.4:c.1670T>G MANE Select | NP_000024.2:p.Val557Gly |