HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451309A= , CM000674.2:g.52451309A= | GRCh38 |
NC_000012.11:g.52845093A= , CM000674.1:g.52845093A= | GRCh37 |
NC_000012.10:g.51131360A= | NCBI36 |
NG_008299.1:g.5818T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.540+230T= MANE Select | ENSP00000252252.3:n.540+230T= | |
ENST00000252252.3:c.540+230T= | ENSP00000252252.3:n.540+230T= | |
NM_005555.3:c.540+230T= | NP_005546.2:n.540+230T= | |
NM_005555.4:c.540+230T= MANE Select | NP_005546.2:n.540+230T= |