HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80591671C>T , CM000677.2:g.80591671C>T | GRCh38 |
NC_000015.9:g.80884012C>T , CM000677.1:g.80884012C>T | GRCh37 |
NC_000015.8:g.78671067C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303329.9:c.2022C>T MANE Select | ENSP00000307479.4:p.Ser674= | |
ENST00000303329.8:c.2022C>T | ENSP00000307479.4:p.Ser674= | |
ENST00000527771.5:c.1989C>T | ENSP00000453792.1:p.Ser663= | |
ENST00000533983.5:c.1989C>T | ENSP00000453651.1:p.Ser663= | |
ENST00000610490.4:c.*320C>T | ENSP00000483762.1:n.*320C>T | |
ENST00000622346.4:c.2022C>T | ENSP00000479393.1:p.Ser674= | |
NM_014862.3:c.2022C>T | NP_055677.3:p.Ser674= | |
NM_014862.4:c.2022C>T MANE Select | NP_055677.3:p.Ser674= |