HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96144991G>C , CM000670.2:g.96144991G>C | GRCh38 |
NC_000008.10:g.97157219G>C , CM000670.1:g.97157219G>C | GRCh37 |
NC_000008.9:g.97226395G>C | NCBI36 |
NG_008981.1:g.20802C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.940C>G MANE Select | ENSP00000287020.4:p.Pro314Ala | |
ENST00000287020.6:c.940C>G | ENSP00000287020.4:p.Pro314Ala | |
ENST00000620978.1:c.793+85C>G | ENSP00000480170.1:n.793+85C>G | |
ENST00000621429.1:c.874+66C>G | ENSP00000483711.1:n.874+66C>G | |
NM_001001557.2:c.940C>G | NP_001001557.1:p.Pro314Ala | |
XM_011517030.1:c.541C>G | XP_011515332.1:p.Pro181Ala | |
NM_001001557.3:c.940C>G | NP_001001557.1:p.Pro314Ala | |
NM_001001557.4:c.940C>G MANE Select | NP_001001557.1:p.Pro314Ala |