Linked Data
ClinVar Variation Id:
1695749
ClinVar RCV Id:
RCV002265384
dbSNP Id:
rs1208675887
gnomAD v3:
X-25013228-G-T
gnomAD v4:
X-25013228-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013228G>T , CM000685.2:g.25013228G>T | GRCh38 |
| NC_000023.10:g.25031345G>T , CM000685.1:g.25031345G>T | GRCh37 |
| NC_000023.9:g.24941266G>T | NCBI36 |
| NG_008281.1:g.7721C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.767C>A MANE Select | ENSP00000368332.4:p.Ala256Asp | |
| ENST00000379044.4:c.767C>A | ENSP00000368332.4:p.Ala256Asp | |
| NM_139058.2:c.767C>A | NP_620689.1:p.Ala256Asp | |
| NM_139058.3:c.767C>A MANE Select | NP_620689.1:p.Ala256Asp |