HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96145015C>T , CM000670.2:g.96145015C>T | GRCh38 |
NC_000008.10:g.97157243C>T , CM000670.1:g.97157243C>T | GRCh37 |
NC_000008.9:g.97226419C>T | NCBI36 |
NG_008981.1:g.20778G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.916G>A MANE Select | ENSP00000287020.4:p.Gly306Ser | |
ENST00000287020.6:c.916G>A | ENSP00000287020.4:p.Gly306Ser | |
ENST00000620978.1:c.793+61G>A | ENSP00000480170.1:n.793+61G>A | |
ENST00000621429.1:c.874+42G>A | ENSP00000483711.1:n.874+42G>A | |
NM_001001557.2:c.916G>A | NP_001001557.1:p.Gly306Ser | |
XM_011517030.1:c.517G>A | XP_011515332.1:p.Gly173Ser | |
NM_001001557.3:c.916G>A | NP_001001557.1:p.Gly306Ser | |
NM_001001557.4:c.916G>A MANE Select | NP_001001557.1:p.Gly306Ser |