HGVS | Genome Assembly |
---|---|
NC_000003.12:g.119413987C>A , CM000665.2:g.119413987C>A | GRCh38 |
NC_000003.11:g.119132834C>A , CM000665.1:g.119132834C>A | GRCh37 |
NC_000003.10:g.120615524C>A | NCBI36 |
NG_007665.2:g.124615C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264245.9:c.2058C>A MANE Select | ENSP00000264245.4:p.Leu686= | |
ENST00000264245.8:c.2058C>A | ENSP00000264245.4:p.Leu686= | |
NM_020754.3:c.2058C>A | NP_065805.2:p.Leu686= | |
XM_005247671.3:c.1965C>A | XP_005247728.1:p.Leu655= | |
XM_006713714.2:c.1998C>A | XP_006713777.1:p.Leu666= | |
XM_006713714.3:c.1998C>A | XP_006713777.1:p.Leu666= | |
XM_017006955.1:c.1566C>A | XP_016862444.1:p.Leu522= | |
NM_020754.4:c.2058C>A MANE Select | NP_065805.2:p.Leu686= |