HGVS | Genome Assembly |
---|---|
NC_000011.10:g.45910259C>G , CM000673.2:g.45910259C>G | GRCh38 |
NC_000011.9:g.45931810C>G , CM000673.1:g.45931810C>G | GRCh37 |
NC_000011.8:g.45888386C>G | NCBI36 |
NG_008460.1:g.12865G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378750.10:c.1006G>C MANE Select | ENSP00000368024.5:p.Gly336Arg | |
ENST00000241041.7:c.953-82G>C | ENSP00000241041.3:n.953-82G>C | |
ENST00000378750.9:c.1006G>C | ENSP00000368024.5:p.Gly336Arg | |
ENST00000523721.2:n.236G>C | ||
ENST00000532681.5:c.721G>C | ENSP00000434654.1:p.Gly241Arg | |
NM_004813.2:c.1006G>C | NP_004804.1:p.Gly336Arg | |
NM_057174.2:c.953-82G>C | NP_476515.1:n.953-82G>C | |
XM_011520474.1:c.883G>C | XP_011518776.1:p.Gly295Arg | |
NM_004813.3:c.1006G>C | NP_004804.1:p.Gly336Arg | |
NM_004813.4:c.1006G>C MANE Select | NP_004804.2:p.Gly336Arg | |
NM_057174.3:c.953-82G>C | NP_476515.2:n.953-82G>C |