HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20992894A= , CM000684.2:g.20992894A= | GRCh38 |
NC_000022.10:g.21347183A= , CM000684.1:g.21347183A= | GRCh37 |
NC_000022.9:g.19677183A= | NCBI36 |
NG_034193.1:g.15626A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000700578.1:c.1250A= | ENSP00000515073.1:p.Tyr417= | |
ENST00000495142.6:n.595A= | ||
ENST00000642151.1:c.1081A= | ||
ENST00000643578.1:n.1272A= | ||
ENST00000646124.2:c.1250A= MANE Select | ENSP00000496779.1:p.Tyr417= | |
ENST00000646506.1:n.829A= | ||
ENST00000215739.12:c.1250A= | ENSP00000215739.8:p.Tyr417= | |
ENST00000479606.5:n.1396A= | ||
ENST00000492480.1:n.306A= | ||
NM_006767.3:c.1250A= | NP_006758.2:p.Tyr417= | |
NM_006767.4:c.1250A= MANE Select | NP_006758.2:p.Tyr417= |