HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917524T>G , CM000685.2:g.29917524T>G | GRCh38 |
NC_000023.10:g.29935641T>G , CM000685.1:g.29935641T>G | GRCh37 |
NC_000023.9:g.29845562T>G | NCBI36 |
NG_008292.1:g.1334961T>G | |
NG_008292.2:g.1334961T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.839T>G MANE Select | ENSP00000368278.1:p.Leu280Ter | |
ENST00000302196.5:c.62T>G | ENSP00000305200.5:p.Leu21Ter | |
ENST00000378993.5:c.839T>G | ENSP00000368278.1:p.Leu280Ter | |
NM_014271.3:c.839T>G | NP_055086.1:p.Leu280Ter | |
XM_005274441.1:c.839T>G | XP_005274498.1:p.Leu280Ter | |
XM_011545445.1:c.839T>G | XP_011543747.1:p.Leu280Ter | |
XM_017029240.1:c.839T>G | XP_016884729.1:p.Leu280Ter | |
XM_017029241.1:c.461T>G | XP_016884730.1:p.Leu154Ter | |
NM_014271.4:c.839T>G MANE Select | NP_055086.1:p.Leu280Ter |