HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410748A= , CM000677.2:g.48410748A= | GRCh38 |
NC_000015.9:g.48702945A= , CM000677.1:g.48702945A= | GRCh37 |
NC_000015.8:g.46490237A= | NCBI36 |
NG_008805.2:g.240041T= , LRG_778:g.240041T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*1666T= | ENSP00000453958.2:n.*1666T= | |
ENST00000682158.1:n.2239T= | ||
ENST00000682170.1:n.3039T= | ||
ENST00000682767.1:n.2155T= | ||
ENST00000316623.10:c.*242T= MANE Select | ENSP00000325527.5:n.*242T= | |
ENST00000316623.9:c.*242T= | ENSP00000325527.5:n.*242T= | |
ENST00000559133.5:c.4227T= | ||
NM_000138.4:c.*242T= , LRG_778t1:c.*242T= | NP_000129.3:n.*242T= | |
NM_000138.5:c.*242T= MANE Select | NP_000129.3:n.*242T= |