HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917553A>G , CM000685.2:g.29917553A>G | GRCh38 |
NC_000023.10:g.29935670A>G , CM000685.1:g.29935670A>G | GRCh37 |
NC_000023.9:g.29845591A>G | NCBI36 |
NG_008292.1:g.1334990A>G | |
NG_008292.2:g.1334990A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.868A>G MANE Select | ENSP00000368278.1:p.Ile290Val | |
ENST00000302196.5:c.91A>G | ENSP00000305200.5:p.Ile31Val | |
ENST00000378993.5:c.868A>G | ENSP00000368278.1:p.Ile290Val | |
NM_014271.3:c.868A>G | NP_055086.1:p.Ile290Val | |
XM_005274441.1:c.868A>G | XP_005274498.1:p.Ile290Val | |
XM_011545445.1:c.868A>G | XP_011543747.1:p.Ile290Val | |
XM_017029240.1:c.868A>G | XP_016884729.1:p.Ile290Val | |
XM_017029241.1:c.490A>G | XP_016884730.1:p.Ile164Val | |
NM_014271.4:c.868A>G MANE Select | NP_055086.1:p.Ile290Val |