Linked Data
ClinVar Variation Id:
2953467
ClinVar RCV Id:
RCV003810585
MyVariant Identifiers:
chr1:g.68895548G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429865G>A , CM000663.2:g.68429865G>A | GRCh38 |
| NC_000001.10:g.68895548G>A , CM000663.1:g.68895548G>A | GRCh37 |
| NC_000001.9:g.68668136G>A | NCBI36 |
| NG_008472.1:g.25095C>T | |
| NG_008472.2:g.25095C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1513C>T MANE Select | ENSP00000262340.5:p.Leu505= | |
| ENST00000262340.5:c.1513C>T | ENSP00000262340.5:p.Leu505= | |
| NM_000329.2:c.1513C>T | NP_000320.1:p.Leu505= | |
| XM_017002027.1:c.1237C>T | XP_016857516.1:p.Leu413= | |
| NM_000329.3:c.1513C>T MANE Select | NP_000320.1:p.Leu505= |