HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123558C>T , CM000679.2:g.72123558C>T | GRCh38 |
NC_000017.10:g.70119699C>T , CM000679.1:g.70119699C>T | GRCh37 |
NC_000017.9:g.67631294C>T | NCBI36 |
NG_012490.1:g.7539C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.701C>T MANE Select | ENSP00000245479.2:p.Pro234Leu | |
ENST00000245479.2:c.701C>T | ENSP00000245479.2:p.Pro234Leu | |
NM_000346.3:c.701C>T | NP_000337.1:p.Pro234Leu | |
NM_000346.4:c.701C>T MANE Select | NP_000337.1:p.Pro234Leu |