HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154966458G>A , CM000685.2:g.154966458G>A | GRCh38 |
NC_000023.10:g.154194733G>A , CM000685.1:g.154194733G>A | GRCh37 |
NC_000023.9:g.153847927G>A | NCBI36 |
NG_011403.1:g.61266C>T | |
NG_011403.2:g.61266C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1239C>T MANE Select | ENSP00000353393.4:p.Asp413= | |
ENST00000647125.1:c.*1115C>T | ENSP00000496062.1:n.*1115C>T | |
ENST00000360256.8:c.1239C>T | ENSP00000353393.4:p.Asp413= | |
ENST00000483822.2:n.59C>T | ||
NM_000132.3:c.1239C>T | NP_000123.1:p.Asp413= | |
XM_011531126.1:c.1134C>T | XP_011529428.1:p.Asp378= | |
NM_000132.4:c.1239C>T MANE Select | NP_000123.1:p.Asp413= |