HGVS | Genome Assembly |
---|---|
NC_000003.12:g.119402377T>G , CM000665.2:g.119402377T>G | GRCh38 |
NC_000003.11:g.119121224T>G , CM000665.1:g.119121224T>G | GRCh37 |
NC_000003.10:g.120603914T>G | NCBI36 |
NG_007665.2:g.113005T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264245.9:c.1625T>G MANE Select | ENSP00000264245.4:p.Leu542Arg | |
ENST00000264245.8:c.1625T>G | ENSP00000264245.4:p.Leu542Arg | |
NM_020754.3:c.1625T>G | NP_065805.2:p.Leu542Arg | |
XM_005247671.3:c.1532T>G | XP_005247728.1:p.Leu511Arg | |
XM_006713714.2:c.1565T>G | XP_006713777.1:p.Leu522Arg | |
XM_006713714.3:c.1565T>G | XP_006713777.1:p.Leu522Arg | |
XM_017006955.1:c.1133T>G | XP_016862444.1:p.Leu378Arg | |
NM_020754.4:c.1625T>G MANE Select | NP_065805.2:p.Leu542Arg |