Linked Data
MyVariant Identifiers:
chr1:g.94508905A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043349A>C , CM000663.2:g.94043349A>C | GRCh38 |
| NC_000001.10:g.94508905A>C , CM000663.1:g.94508905A>C | GRCh37 |
| NC_000001.9:g.94281493A>C | NCBI36 |
| NG_009073.1:g.82801T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3177T>G MANE Select | ENSP00000359245.3:p.Ala1059= | |
| ENST00000370225.3:c.3177T>G | ENSP00000359245.3:p.Ala1059= | |
| ENST00000536513.5:c.-64-3260T>G | ENSP00000439707.2:n.-64-3260T>G | |
| NM_000350.2:c.3177T>G | NP_000341.2:p.Ala1059= | |
| NM_000350.3:c.3177T>G MANE Select | NP_000341.2:p.Ala1059= |