HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86670617C>T , CM000670.2:g.86670617C>T | GRCh38 |
NC_000008.10:g.87682845C>T , CM000670.1:g.87682845C>T | GRCh37 |
NC_000008.9:g.87751961C>T | NCBI36 |
NG_016980.1:g.78059G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.493+327G>A MANE Select | ENSP00000316605.5:n.493+327G>A | |
ENST00000680314.1:n.254+327G>A | ||
ENST00000681746.1:c.493+327G>A | ENSP00000505959.1:n.493+327G>A | |
ENST00000320005.5:c.493+327G>A | ENSP00000316605.5:n.493+327G>A | |
NM_019098.4:c.493+327G>A | NP_061971.3:n.493+327G>A | |
XM_011517138.1:c.79+327G>A | XP_011515440.1:n.79+327G>A | |
XM_011517138.2:c.79+327G>A | XP_011515440.1:n.79+327G>A | |
NM_019098.5:c.493+327G>A MANE Select | NP_061971.3:n.493+327G>A |