HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951513C= , CM000670.2:g.19951513C= | GRCh38 |
NC_000008.10:g.19809024C= , CM000670.1:g.19809024C= | GRCh37 |
NC_000008.9:g.19853304C= | NCBI36 |
NG_008855.1:g.17443C= | |
NG_008855.2:g.54797C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.250-256C= MANE Select | ENSP00000497642.1:n.250-256C= | |
ENST00000311322.8:c.250-256C= | ENSP00000309757.6:n.250-256C= | |
ENST00000520959.5:c.22-256C= | ENSP00000428496.1:n.22-256C= | |
ENST00000521994.1:n.435-184C= | ||
ENST00000522701.5:c.250-256C= | ENSP00000428557.1:n.250-256C= | |
ENST00000524029.5:c.250-256C= | ENSP00000428237.1:n.250-256C= | |
NM_000237.2:c.250-256C= | NP_000228.1:n.250-256C= | |
NM_000237.3:c.250-256C= MANE Select | NP_000228.1:n.250-256C= |