Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007643G>A , CM000663.2:g.94007643G>A | GRCh38 |
| NC_000001.10:g.94473199G>A , CM000663.1:g.94473199G>A | GRCh37 |
| NC_000001.9:g.94245787G>A | NCBI36 |
| NG_009073.1:g.118507C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.5996C>T MANE Select | ENSP00000359245.3:p.Ala1999Val | |
| ENST00000370225.3:c.5996C>T | ENSP00000359245.3:p.Ala1999Val | |
| ENST00000465352.1:n.412C>T | ||
| ENST00000484388.1:n.110C>T | ||
| ENST00000536513.5:c.2372C>T | ENSP00000439707.2:p.Ala791Val | |
| NM_000350.2:c.5996C>T | NP_000341.2:p.Ala1999Val | |
| NM_000350.3:c.5996C>T MANE Select | NP_000341.2:p.Ala1999Val |