Linked Data
dbSNP Id:
rs779883280
gnomAD v3:
1-2025050-C-A
gnomAD v4:
1-2025050-C-A
MyVariant Identifiers:
chr1:g.1956489C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2025050C>A , CM000663.2:g.2025050C>A | GRCh38 |
| NC_000001.10:g.1956489C>A , CM000663.1:g.1956489C>A | GRCh37 |
| NC_000001.9:g.1946349C>A | NCBI36 |
| NG_008168.1:g.10722C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.177C>A MANE Select | ENSP00000367848.4:p.Ile59= | |
| ENST00000638411.1:c.177C>A | ENSP00000491632.1:p.Ile59= | |
| ENST00000638604.1:n.241C>A | ||
| ENST00000638771.1:c.177C>A | ENSP00000492435.1:p.Ile59= | |
| ENST00000639045.1:c.*163C>A | ENSP00000491997.1:n.*163C>A | |
| ENST00000639777.1:n.781C>A | ||
| ENST00000639935.1:n.214C>A | ||
| ENST00000640030.1:c.117C>A | ENSP00000491411.1:p.Ile39= | |
| ENST00000640067.1:c.177C>A | ENSP00000491844.1:p.Ile59= | |
| ENST00000640423.1:n.186C>A | ||
| ENST00000640949.1:c.177C>A | ENSP00000492500.1:p.Ile59= | |
| ENST00000378585.5:c.177C>A | ENSP00000367848.4:p.Ile59= | |
| NM_000815.4:c.177C>A | NP_000806.2:p.Ile59= | |
| XM_011541194.1:c.216C>A | XP_011539496.1:p.Ile72= | |
| XM_011541194.3:c.216C>A | XP_011539496.1:p.Ile72= | |
| XM_017000936.1:c.882C>A | XP_016856425.1:p.Ile294= | |
| NM_000815.5:c.177C>A MANE Select | NP_000806.2:p.Ile59= |