Linked Data
ClinVar Variation Id:
812667
ClinVar RCV Id:
RCV001003472
dbSNP Id:
rs1468724042
gnomAD v2:
X-25025232-C-T
gnomAD v4:
X-25007115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007115C>T , CM000685.2:g.25007115C>T | GRCh38 |
| NC_000023.10:g.25025232C>T , CM000685.1:g.25025232C>T | GRCh37 |
| NC_000023.9:g.24935153C>T | NCBI36 |
| NG_008281.1:g.13834G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1444G>A MANE Select | ENSP00000368332.4:p.Gly482Ser | |
| ENST00000637993.1:c.57G>A | ||
| ENST00000379044.4:c.1444G>A | ENSP00000368332.4:p.Gly482Ser | |
| NM_139058.2:c.1444G>A | NP_620689.1:p.Gly482Ser | |
| NM_139058.3:c.1444G>A MANE Select | NP_620689.1:p.Gly482Ser |