HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111118800T>A , CM000667.2:g.111118800T>A | GRCh38 |
NC_000005.9:g.110454498T>A , CM000667.1:g.110454498T>A | GRCh37 |
NC_000005.8:g.110482397T>A | NCBI36 |
NG_008979.1:g.31629T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513710.4:c.1797-213T>A MANE Select | ENSP00000424628.3:n.1797-213T>A | |
ENST00000506538.6:c.1965-213T>A | ENSP00000423067.2:n.1965-213T>A | |
ENST00000513710.3:c.1797-213T>A | ENSP00000424628.3:n.1797-213T>A | |
ENST00000612402.4:c.1965-213T>A | ENSP00000479950.1:n.1965-213T>A | |
NM_139281.2:c.1965-213T>A | NP_644810.1:n.1965-213T>A | |
XM_011543163.1:c.1965-213T>A | XP_011541465.1:n.1965-213T>A | |
NM_139281.3:c.1797-213T>A MANE Select | NP_644810.2:n.1797-213T>A |