HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136055781T>A , CM000667.2:g.136055781T>A | GRCh38 |
NC_000005.9:g.135391470T>A , CM000667.1:g.135391470T>A | GRCh37 |
NC_000005.8:g.135419369T>A | NCBI36 |
NG_012646.1:g.31887T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.1512T>A MANE Select | ENSP00000416330.2:p.Thr504= | |
ENST00000442011.6:c.1512T>A | ENSP00000416330.2:p.Thr504= | |
ENST00000506699.5:n.2029T>A | ||
ENST00000507018.5:c.1490T>A | ||
ENST00000509485.5:c.427T>A | ||
ENST00000514242.5:n.283T>A | ||
ENST00000514554.5:c.664T>A | ||
NM_000358.2:c.1512T>A | NP_000349.1:p.Thr504= | |
NM_000358.3:c.1512T>A MANE Select | NP_000349.1:p.Thr504= |