HGVS | Genome Assembly |
---|---|
NC_000011.10:g.299461G>C , CM000673.2:g.299461G>C | GRCh38 |
NC_000011.9:g.299461G>C , CM000673.1:g.299461G>C | GRCh37 |
NC_000011.8:g.289461G>C | NCBI36 |
NG_032892.1:g.5066C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382614.2:c.30C>G MANE Select | ENSP00000372059.2:p.Thr10= | |
NM_001025295.2:c.30C>G | NP_001020466.1:p.Thr10= | |
NM_001025295.3:c.30C>G MANE Select | NP_001020466.1:p.Thr10= |