HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86670577C>A , CM000670.2:g.86670577C>A | GRCh38 |
NC_000008.10:g.87682805C>A , CM000670.1:g.87682805C>A | GRCh37 |
NC_000008.9:g.87751921C>A | NCBI36 |
NG_016980.1:g.78099G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.493+367G>T MANE Select | ENSP00000316605.5:n.493+367G>T | |
ENST00000680314.1:n.254+367G>T | ||
ENST00000681746.1:c.493+367G>T | ENSP00000505959.1:n.493+367G>T | |
ENST00000320005.5:c.493+367G>T | ENSP00000316605.5:n.493+367G>T | |
NM_019098.4:c.493+367G>T | NP_061971.3:n.493+367G>T | |
XM_011517138.1:c.79+367G>T | XP_011515440.1:n.79+367G>T | |
XM_011517138.2:c.79+367G>T | XP_011515440.1:n.79+367G>T | |
NM_019098.5:c.493+367G>T MANE Select | NP_061971.3:n.493+367G>T |