HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65246112A= , CM000674.2:g.65246112A= | GRCh38 |
NC_000012.11:g.65639892A= , CM000674.1:g.65639892A= | GRCh37 |
NC_000012.10:g.63926159A= | NCBI36 |
NG_016210.1:g.81542A= | |
NG_016210.2:g.81542A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.2573-50A= MANE Select | ENSP00000308369.2:n.2573-50A= | |
ENST00000308330.2:c.2573-50A= | ENSP00000308369.2:n.2573-50A= | |
ENST00000539442.1:n.555-50A= | ||
ENST00000544506.1:n.293-50A= | ||
ENST00000545026.1:n.391-50A= | ||
NM_001167614.1:c.2570-50A= | NP_001161086.1:n.2570-50A= | |
NM_014319.4:c.2573-50A= | NP_055134.2:n.2573-50A= | |
NM_014319.5:c.2573-50A= MANE Select | NP_055134.2:n.2573-50A= | |
NM_001167614.2:c.2570-50A= | NP_001161086.1:n.2570-50A= |