HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189571635G>T , CM000664.2:g.189571635G>T | GRCh38 |
NC_000002.11:g.190436361G>T , CM000664.1:g.190436361G>T | GRCh37 |
NC_000002.10:g.190144606G>T | NCBI36 |
NG_009027.1:g.14177C>A , LRG_837:g.14177C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.514+80C>A MANE Select | ENSP00000261024.3:n.514+80C>A | |
ENST00000261024.6:c.514+80C>A | ENSP00000261024.2:n.514+80C>A | |
ENST00000427241.5:c.514+80C>A | ENSP00000390005.1:n.514+80C>A | |
NM_014585.5:c.514+80C>A , LRG_837t1:c.514+80C>A | NP_055400.1:n.514+80C>A | |
XM_005246505.1:c.394+80C>A | XP_005246562.1:n.394+80C>A | |
XM_005246505.2:c.394+80C>A | XP_005246562.1:n.394+80C>A | |
XM_017003938.2:c.394+80C>A | XP_016859427.1:n.394+80C>A | |
NM_014585.6:c.514+80C>A MANE Select | NP_055400.1:n.514+80C>A |