HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96145046C>G , CM000670.2:g.96145046C>G | GRCh38 |
NC_000008.10:g.97157274C>G , CM000670.1:g.97157274C>G | GRCh37 |
NC_000008.9:g.97226450C>G | NCBI36 |
NG_008981.1:g.20747G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.885G>C MANE Select | ENSP00000287020.4:p.Glu295Asp | |
ENST00000287020.6:c.885G>C | ENSP00000287020.4:p.Glu295Asp | |
ENST00000620978.1:c.793+30G>C | ENSP00000480170.1:n.793+30G>C | |
ENST00000621429.1:c.874+11G>C | ENSP00000483711.1:n.874+11G>C | |
NM_001001557.2:c.885G>C | NP_001001557.1:p.Glu295Asp | |
XM_011517030.1:c.486G>C | XP_011515332.1:p.Glu162Asp | |
NM_001001557.3:c.885G>C | NP_001001557.1:p.Glu295Asp | |
NM_001001557.4:c.885G>C MANE Select | NP_001001557.1:p.Glu295Asp |