HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216343848C>T , CM000664.2:g.216343848C>T | GRCh38 |
NC_000002.11:g.217208571C>T , CM000664.1:g.217208571C>T | GRCh37 |
NC_000002.10:g.216916816C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000273067.5:c.516+25897G>A MANE Select | ENSP00000273067.3:n.516+25897G>A | |
ENST00000273067.4:c.516+25897G>A | ENSP00000273067.3:n.516+25897G>A | |
NM_020814.2:c.516+25897G>A | NP_065865.1:n.516+25897G>A | |
XM_011511523.1:c.9+15392G>A | XP_011509825.1:n.9+15392G>A | |
NM_020814.3:c.516+25897G>A MANE Select | NP_065865.1:n.516+25897G>A |