Linked Data
ClinVar Variation Id:
2933501
ClinVar RCV Id:
RCV003790619
dbSNP Id:
rs776229399
ExAC:
1:68895507 C / T
gnomAD v2:
1-68895507-C-T
gnomAD v3:
1-68429824-C-T
gnomAD v4:
1-68429824-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429824C>T , CM000663.2:g.68429824C>T | GRCh38 |
| NC_000001.10:g.68895507C>T , CM000663.1:g.68895507C>T | GRCh37 |
| NC_000001.9:g.68668095C>T | NCBI36 |
| NG_008472.1:g.25136G>A | |
| NG_008472.2:g.25136G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1554G>A MANE Select | ENSP00000262340.5:p.Val518= | |
| ENST00000262340.5:c.1554G>A | ENSP00000262340.5:p.Val518= | |
| NM_000329.2:c.1554G>A | NP_000320.1:p.Val518= | |
| XM_017002027.1:c.1278G>A | XP_016857516.1:p.Val426= | |
| NM_000329.3:c.1554G>A MANE Select | NP_000320.1:p.Val518= |