HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86667135T>C , CM000670.2:g.86667135T>C | GRCh38 |
NC_000008.10:g.87679363T>C , CM000670.1:g.87679363T>C | GRCh37 |
NC_000008.9:g.87748479T>C | NCBI36 |
NG_016980.1:g.81541A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.644-2A>G MANE Select | ENSP00000316605.5:n.644-2A>G | |
ENST00000681746.1:c.644-2A>G | ENSP00000505959.1:n.644-2A>G | |
ENST00000320005.5:c.644-2A>G | ENSP00000316605.5:n.644-2A>G | |
NM_019098.4:c.644-2A>G | NP_061971.3:n.644-2A>G | |
XM_011517138.1:c.230-2A>G | XP_011515440.1:n.230-2A>G | |
XM_011517138.2:c.230-2A>G | XP_011515440.1:n.230-2A>G | |
NM_019098.5:c.644-2A>G MANE Select | NP_061971.3:n.644-2A>G |