Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021336G>A , CM000663.2:g.94021336G>A | GRCh38 |
| NC_000001.10:g.94486892G>A , CM000663.1:g.94486892G>A | GRCh37 |
| NC_000001.9:g.94259480G>A | NCBI36 |
| NG_009073.1:g.104814C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4922C>T MANE Select | ENSP00000359245.3:p.Ala1641Val | |
| ENST00000370225.3:c.4922C>T | ENSP00000359245.3:p.Ala1641Val | |
| ENST00000460514.1:n.416C>T | ||
| ENST00000470771.1:n.32C>T | ||
| ENST00000536513.5:c.1298C>T | ENSP00000439707.2:p.Ala433Val | |
| NM_000350.2:c.4922C>T | NP_000341.2:p.Ala1641Val | |
| NM_000350.3:c.4922C>T MANE Select | NP_000341.2:p.Ala1641Val |