HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58576889C>A , CM000663.2:g.58576889C>A | GRCh38 |
NC_000001.10:g.59042561C>A , CM000663.1:g.59042561C>A | GRCh37 |
NC_000001.9:g.58815149C>A | NCBI36 |
NG_016237.1:g.5606G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371225.4:c.268G>T MANE Select | ENSP00000360269.2:p.Val90Leu | |
ENST00000371225.3:c.268G>T | ENSP00000360269.2:p.Val90Leu | |
NM_002353.2:c.268G>T | NP_002344.2:p.Val90Leu | |
NM_002353.3:c.268G>T MANE Select | NP_002344.2:p.Val90Leu |