Linked Data
ClinVar Variation Id:
1444341
ClinVar RCV Id:
RCV001982356
dbSNP Id:
rs759399062
gnomAD v4:
X-25013222-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013222G>T , CM000685.2:g.25013222G>T | GRCh38 |
| NC_000023.10:g.25031339G>T , CM000685.1:g.25031339G>T | GRCh37 |
| NC_000023.9:g.24941260G>T | NCBI36 |
| NG_008281.1:g.7727C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.773C>A MANE Select | ENSP00000368332.4:p.Ala258Glu | |
| ENST00000379044.4:c.773C>A | ENSP00000368332.4:p.Ala258Glu | |
| NM_139058.2:c.773C>A | NP_620689.1:p.Ala258Glu | |
| NM_139058.3:c.773C>A MANE Select | NP_620689.1:p.Ala258Glu |