HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046385A>C , CM000667.2:g.136046385A>C | GRCh38 |
NC_000005.9:g.135382074A>C , CM000667.1:g.135382074A>C | GRCh37 |
NC_000005.8:g.135409973A>C | NCBI36 |
NG_012646.1:g.22491A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.349A>C MANE Select | ENSP00000416330.2:p.Thr117Pro | |
ENST00000442011.6:c.349A>C | ENSP00000416330.2:p.Thr117Pro | |
ENST00000504185.5:n.506A>C | ||
ENST00000506699.5:n.414A>C | ||
ENST00000507018.5:c.266A>C | ||
ENST00000515433.1:n.641A>C | ||
NM_000358.2:c.349A>C | NP_000349.1:p.Thr117Pro | |
NM_000358.3:c.349A>C MANE Select | NP_000349.1:p.Thr117Pro |