HGVS | Genome Assembly |
---|---|
NC_000014.9:g.21634802G>C , CM000676.2:g.21634802G>C | GRCh38 |
NC_000014.8:g.22102958G>C , CM000676.1:g.22102958G>C | GRCh37 |
NC_000014.7:g.21172798G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000542433.1:c.41C>G MANE Select | ENSP00000445383.1:p.Thr14Arg | |
NM_001005466.2:c.41C>G MANE Select | NP_001005466.2:p.Thr14Arg |