HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65238618T= , CM000674.2:g.65238618T= | GRCh38 |
NC_000012.11:g.65632398T= , CM000674.1:g.65632398T= | GRCh37 |
NC_000012.10:g.63918665T= | NCBI36 |
NG_016210.1:g.74048T= | |
NG_016210.2:g.74048T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.1775+37T= MANE Select | ENSP00000308369.2:n.1775+37T= | |
ENST00000308330.2:c.1775+37T= | ENSP00000308369.2:n.1775+37T= | |
NM_001167614.1:c.1772+37T= | NP_001161086.1:n.1772+37T= | |
NM_014319.4:c.1775+37T= | NP_055134.2:n.1775+37T= | |
NM_014319.5:c.1775+37T= MANE Select | NP_055134.2:n.1775+37T= | |
NM_001167614.2:c.1772+37T= | NP_001161086.1:n.1772+37T= |