HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18400764A>T , CM000670.2:g.18400764A>T | GRCh38 |
NC_000008.10:g.18258274A>T , CM000670.1:g.18258274A>T | GRCh37 |
NC_000008.9:g.18302554A>T | NCBI36 |
NG_012246.1:g.14520A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286479.4:c.761A>T MANE Select | ENSP00000286479.3:p.Glu254Val | |
ENST00000286479.3:c.761A>T | ENSP00000286479.3:p.Glu254Val | |
ENST00000520116.1:c.371A>T | ENSP00000428416.1:p.Glu124Val | |
NM_000015.2:c.761A>T | NP_000006.2:p.Glu254Val | |
XM_011544358.1:c.761A>T | XP_011542660.1:p.Glu254Val | |
XM_017012938.1:c.761A>T | XP_016868427.1:p.Glu254Val | |
NM_000015.3:c.761A>T MANE Select | NP_000006.2:p.Glu254Val |