HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116822652C>T , CM000673.2:g.116822652C>T | GRCh38 |
NC_000011.9:g.116693368C>T , CM000673.1:g.116693368C>T | GRCh37 |
NC_000011.8:g.116198578C>T | NCBI36 |
NG_012044.1:g.5644G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357780.5:c.176+7G>A MANE Select | ENSP00000350425.3:n.176+7G>A | |
ENST00000357780.4:c.176+7G>A | ENSP00000350425.3:n.176+7G>A | |
NM_000482.3:c.176+7G>A | NP_000473.2:n.176+7G>A | |
NM_000482.4:c.176+7G>A MANE Select | NP_000473.2:n.176+7G>A |