Linked Data
ClinVar Variation Id:
2937609
ClinVar RCV Id:
RCV003794239
dbSNP Id:
rs773001690
ExAC:
X:25031185 G / A
gnomAD v2:
X-25031185-G-A
gnomAD v4:
X-25013068-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013068G>A , CM000685.2:g.25013068G>A | GRCh38 |
| NC_000023.10:g.25031185G>A , CM000685.1:g.25031185G>A | GRCh37 |
| NC_000023.9:g.24941106G>A | NCBI36 |
| NG_008281.1:g.7881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.927C>T MANE Select | ENSP00000368332.4:p.Asp309= | |
| ENST00000379044.4:c.927C>T | ENSP00000368332.4:p.Asp309= | |
| NM_139058.2:c.927C>T | NP_620689.1:p.Asp309= | |
| NM_139058.3:c.927C>T MANE Select | NP_620689.1:p.Asp309= |