HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18400459G>A , CM000670.2:g.18400459G>A | GRCh38 |
NC_000008.10:g.18257969G>A , CM000670.1:g.18257969G>A | GRCh37 |
NC_000008.9:g.18302249G>A | NCBI36 |
NG_012246.1:g.14215G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286479.4:c.456G>A MANE Select | ENSP00000286479.3:p.Leu152= | |
ENST00000286479.3:c.456G>A | ENSP00000286479.3:p.Leu152= | |
ENST00000520116.1:c.66G>A | ENSP00000428416.1:p.Leu22= | |
NM_000015.2:c.456G>A | NP_000006.2:p.Leu152= | |
XM_011544358.1:c.456G>A | XP_011542660.1:p.Leu152= | |
XM_017012938.1:c.456G>A | XP_016868427.1:p.Leu152= | |
NM_000015.3:c.456G>A MANE Select | NP_000006.2:p.Leu152= |