HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25013239C>A , CM000685.2:g.25013239C>A | GRCh38 |
NC_000023.10:g.25031356C>A , CM000685.1:g.25031356C>A | GRCh37 |
NC_000023.9:g.24941277C>A | NCBI36 |
NG_008281.1:g.7710G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379044.5:c.756G>T MANE Select | ENSP00000368332.4:p.Leu252= | |
ENST00000379044.4:c.756G>T | ENSP00000368332.4:p.Leu252= | |
NM_139058.2:c.756G>T | NP_620689.1:p.Leu252= | |
NM_139058.3:c.756G>T MANE Select | NP_620689.1:p.Leu252= |