HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96144665G>C , CM000670.2:g.96144665G>C | GRCh38 |
NC_000008.10:g.97156893G>C , CM000670.1:g.97156893G>C | GRCh37 |
NC_000008.9:g.97226069G>C | NCBI36 |
NG_008981.1:g.21128C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287020.7:c.1266C>G MANE Select | ENSP00000287020.4:p.Pro422= | |
ENST00000287020.6:c.1266C>G | ENSP00000287020.4:p.Pro422= | |
ENST00000620978.1:c.806C>G | ENSP00000480170.1:p.Pro269Arg | |
ENST00000621429.1:c.1015C>G | ENSP00000483711.1:p.His339Asp | |
NM_001001557.2:c.1266C>G | NP_001001557.1:p.Pro422= | |
XM_011517030.1:c.867C>G | XP_011515332.1:p.Pro289= | |
NM_001001557.3:c.1266C>G | NP_001001557.1:p.Pro422= | |
NM_001001557.4:c.1266C>G MANE Select | NP_001001557.1:p.Pro422= |