HGVS | Genome Assembly |
---|---|
NC_000014.9:g.20999754T>A , CM000676.2:g.20999754T>A | GRCh38 |
NC_000014.8:g.21467913T>A , CM000676.1:g.21467913T>A | GRCh37 |
NC_000014.7:g.20537753T>A | NCBI36 |
NG_017065.1:g.5500T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298681.5:c.128T>A MANE Select | ENSP00000298681.4:p.Leu43Gln | |
ENST00000298681.4:c.128T>A | ENSP00000298681.4:p.Leu43Gln | |
ENST00000554128.1:n.284T>A | ||
ENST00000554422.5:c.128T>A | ENSP00000452568.1:p.Leu43Gln | |
NM_001256588.1:c.128T>A | NP_001243517.1:p.Leu43Gln | |
NM_014579.3:c.128T>A | NP_055394.2:p.Leu43Gln | |
NM_014579.4:c.128T>A MANE Select | NP_055394.2:p.Leu43Gln | |
NM_001256588.2:c.128T>A | NP_001243517.1:p.Leu43Gln |