HGVS | Genome Assembly |
---|---|
NC_000011.10:g.299439C>T , CM000673.2:g.299439C>T | GRCh38 |
NC_000011.9:g.299439C>T , CM000673.1:g.299439C>T | GRCh37 |
NC_000011.8:g.289439C>T | NCBI36 |
NG_032892.1:g.5088G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382614.2:c.52G>A MANE Select | ENSP00000372059.2:p.Ala18Thr | |
NM_001025295.2:c.52G>A | NP_001020466.1:p.Ala18Thr | |
NM_001025295.3:c.52G>A MANE Select | NP_001020466.1:p.Ala18Thr |