HGVS | Genome Assembly |
---|---|
NC_000015.10:g.45103917A= , CM000677.2:g.45103917A= | GRCh38 |
NC_000015.9:g.45396115A= , CM000677.1:g.45396115A= | GRCh37 |
NC_000015.8:g.43183407A= | NCBI36 |
NG_009447.1:g.15245T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389039.11:c.2654+43T= MANE Select | ENSP00000373691.7:n.2654+43T= | |
ENST00000389039.10:c.2654+43T= | ENSP00000373691.6:n.2654+43T= | |
ENST00000558383.1:n.4385+43T= | ||
ENST00000603300.1:c.2654+43T= | ENSP00000475084.1:n.2654+43T= | |
NM_014080.4:c.2654+43T= | NP_054799.4:n.2654+43T= | |
XM_005254421.2:c.2654+43T= | XP_005254478.1:n.2654+43T= | |
NM_001363711.1:c.2654+43T= | NP_001350640.1:n.2654+43T= | |
NM_001363711.2:c.2654+43T= MANE Select | NP_001350640.1:n.2654+43T= | |
NM_014080.5:c.2654+43T= | NP_054799.4:n.2654+43T= |