Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116703C>A , CM000663.2:g.206116703C>A | GRCh38 |
| NC_000001.10:g.206224628G>T , CM000663.1:g.206224628G>T | GRCh37 |
| NC_000001.9:g.204391251G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367126.5:c.188G>T MANE Select | ENSP00000356094.4:p.Gly63Val | |
| ENST00000367126.4:c.188G>T | ENSP00000356094.4:p.Gly63Val | |
| ENST00000612906.1:n.36+961G>T | ||
| NM_000707.3:c.188G>T | NP_000698.1:p.Gly63Val | |
| NM_000707.4:c.188G>T | NP_000698.1:p.Gly63Val | |
| NM_000707.5:c.188G>T MANE Select | NP_000698.1:p.Gly63Val |