Linked Data
ClinVar Variation Id:
3028822
ClinVar RCV Id:
RCV003890687
gnomAD v3:
1-68429894-G-T
gnomAD v4:
1-68429894-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429894G>T , CM000663.2:g.68429894G>T | GRCh38 |
| NC_000001.10:g.68895577G>T , CM000663.1:g.68895577G>T | GRCh37 |
| NC_000001.9:g.68668165G>T | NCBI36 |
| NG_008472.1:g.25066C>A | |
| NG_008472.2:g.25066C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1484C>A MANE Select | ENSP00000262340.5:p.Ala495Glu | |
| ENST00000262340.5:c.1484C>A | ENSP00000262340.5:p.Ala495Glu | |
| NM_000329.2:c.1484C>A | NP_000320.1:p.Ala495Glu | |
| XM_017002027.1:c.1208C>A | XP_016857516.1:p.Ala403Glu | |
| NM_000329.3:c.1484C>A MANE Select | NP_000320.1:p.Ala495Glu |