Linked Data
ClinVar Variation Id:
591887
ClinVar RCV Id:
RCV000723070
dbSNP Id:
rs1315423792
gnomAD v4:
X-25013247-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013247C>A , CM000685.2:g.25013247C>A | GRCh38 |
| NC_000023.10:g.25031364C>A , CM000685.1:g.25031364C>A | GRCh37 |
| NC_000023.9:g.24941285C>A | NCBI36 |
| NG_008281.1:g.7702G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.748G>T MANE Select | ENSP00000368332.4:p.Glu250Ter | |
| ENST00000379044.4:c.748G>T | ENSP00000368332.4:p.Glu250Ter | |
| NM_139058.2:c.748G>T | NP_620689.1:p.Glu250Ter | |
| NM_139058.3:c.748G>T MANE Select | NP_620689.1:p.Glu250Ter |