Linked Data
ClinVar Variation Id:
2943949
ClinVar RCV Id:
RCV003803507
dbSNP Id:
rs1315423792
gnomAD v3:
X-25013247-C-T
gnomAD v4:
X-25013247-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013247C>T , CM000685.2:g.25013247C>T | GRCh38 |
| NC_000023.10:g.25031364C>T , CM000685.1:g.25031364C>T | GRCh37 |
| NC_000023.9:g.24941285C>T | NCBI36 |
| NG_008281.1:g.7702G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.748G>A MANE Select | ENSP00000368332.4:p.Glu250Lys | |
| ENST00000379044.4:c.748G>A | ENSP00000368332.4:p.Glu250Lys | |
| NM_139058.2:c.748G>A | NP_620689.1:p.Glu250Lys | |
| NM_139058.3:c.748G>A MANE Select | NP_620689.1:p.Glu250Lys |