HGVS | Genome Assembly |
---|---|
NC_000017.11:g.56594421G>T , CM000679.2:g.56594421G>T | GRCh38 |
NC_000017.10:g.54671782G>T , CM000679.1:g.54671782G>T | GRCh37 |
NC_000017.9:g.52026781G>T | NCBI36 |
NG_011958.1:g.5723G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332822.6:c.198G>T MANE Select | ENSP00000328181.4:p.Leu66= | |
ENST00000332822.4:c.198G>T | ENSP00000328181.4:p.Leu66= | |
NM_005450.4:c.198G>T | NP_005441.1:p.Leu66= | |
NM_005450.6:c.198G>T MANE Select | NP_005441.1:p.Leu66= |