HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96144991G>T , CM000670.2:g.96144991G>T | GRCh38 |
NC_000008.10:g.97157219G>T , CM000670.1:g.97157219G>T | GRCh37 |
NC_000008.9:g.97226395G>T | NCBI36 |
NG_008981.1:g.20802C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.940C>A MANE Select | ENSP00000287020.4:p.Pro314Thr | |
ENST00000287020.6:c.940C>A | ENSP00000287020.4:p.Pro314Thr | |
ENST00000620978.1:c.793+85C>A | ENSP00000480170.1:n.793+85C>A | |
ENST00000621429.1:c.874+66C>A | ENSP00000483711.1:n.874+66C>A | |
NM_001001557.2:c.940C>A | NP_001001557.1:p.Pro314Thr | |
XM_011517030.1:c.541C>A | XP_011515332.1:p.Pro181Thr | |
NM_001001557.3:c.940C>A | NP_001001557.1:p.Pro314Thr | |
NM_001001557.4:c.940C>A MANE Select | NP_001001557.1:p.Pro314Thr |