HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951733T= , CM000670.2:g.19951733T= | GRCh38 |
NC_000008.10:g.19809244T= , CM000670.1:g.19809244T= | GRCh37 |
NC_000008.9:g.19853524T= | NCBI36 |
NG_008855.1:g.17663T= | |
NG_008855.2:g.55017T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.250-36T= MANE Select | ENSP00000497642.1:n.250-36T= | |
ENST00000311322.8:c.250-36T= | ENSP00000309757.6:n.250-36T= | |
ENST00000520959.5:c.22-36T= | ENSP00000428496.1:n.22-36T= | |
ENST00000521994.1:n.471T= | ||
ENST00000522701.5:c.250-36T= | ENSP00000428557.1:n.250-36T= | |
ENST00000524029.5:c.250-36T= | ENSP00000428237.1:n.250-36T= | |
NM_000237.2:c.250-36T= | NP_000228.1:n.250-36T= | |
NM_000237.3:c.250-36T= MANE Select | NP_000228.1:n.250-36T= |