Linked Data
ClinVar Variation Id:
98895
dbSNP Id:
rs281865289
gnomAD v4:
1-68439081-C-A
ERepo:
CA226585/MONDO:0100368/120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68439081C>A , CM000663.2:g.68439081C>A | GRCh38 |
| NC_000001.10:g.68904764C>A , CM000663.1:g.68904764C>A | GRCh37 |
| NC_000001.9:g.68677352C>A | NCBI36 |
| NG_008472.1:g.15879G>T | |
| NG_008472.2:g.15879G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262340.6:c.859G>T MANE Select | ENSP00000262340.5:p.Val287Phe | |
| ENST00000262340.5:c.859G>T | ENSP00000262340.5:p.Val287Phe | |
| NM_000329.2:c.859G>T | NP_000320.1:p.Val287Phe | |
| XM_017002027.1:c.583G>T | XP_016857516.1:p.Val195Phe | |
| NM_000329.3:c.859G>T MANE Select | NP_000320.1:p.Val287Phe |