Linked Data
ClinVar Variation Id:
386858
ClinVar RCV Id:
RCV001712267
dbSNP Id:
rs1006404746
gnomAD v2:
X-25031449-G-A
gnomAD v3:
X-25013332-G-A
gnomAD v4:
X-25013332-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013332G>A , CM000685.2:g.25013332G>A | GRCh38 |
| NC_000023.10:g.25031449G>A , CM000685.1:g.25031449G>A | GRCh37 |
| NC_000023.9:g.24941370G>A | NCBI36 |
| NG_008281.1:g.7617C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.663C>T MANE Select | ENSP00000368332.4:p.Thr221= | |
| ENST00000379044.4:c.663C>T | ENSP00000368332.4:p.Thr221= | |
| NM_139058.2:c.663C>T | NP_620689.1:p.Thr221= | |
| NM_139058.3:c.663C>T MANE Select | NP_620689.1:p.Thr221= |