HGVS | Genome Assembly |
---|---|
NC_000011.10:g.299473G>C , CM000673.2:g.299473G>C | GRCh38 |
NC_000011.9:g.299473G>C , CM000673.1:g.299473G>C | GRCh37 |
NC_000011.8:g.289473G>C | NCBI36 |
NG_032892.1:g.5054C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382614.2:c.18C>G MANE Select | ENSP00000372059.2:p.Pro6= | |
NM_001025295.2:c.18C>G | NP_001020466.1:p.Pro6= | |
NM_001025295.3:c.18C>G MANE Select | NP_001020466.1:p.Pro6= |