HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15445617G>T , CM000663.2:g.15445617G>T | GRCh38 |
NC_000001.10:g.15772112G>T , CM000663.1:g.15772112G>T | GRCh37 |
NC_000001.9:g.15644699G>T | NCBI36 |
NG_009253.1:g.12175G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375949.5:c.660G>T MANE Select | ENSP00000365116.4:p.Leu220= | |
ENST00000375943.6:c.*114G>T | ENSP00000365110.2:n.*114G>T | |
ENST00000375949.4:c.660G>T | ENSP00000365116.4:p.Leu220= | |
ENST00000483406.1:n.424G>T | ||
NM_007272.2:c.660G>T | NP_009203.2:p.Leu220= | |
XM_011540550.1:c.514G>T | XP_011538852.1:p.Glu172Ter | |
NM_007272.3:c.660G>T MANE Select | NP_009203.2:p.Leu220= |