HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17401303G>C , CM000663.2:g.17401303G>C | GRCh38 |
NC_000001.10:g.17727799G>C , CM000663.1:g.17727799G>C | GRCh37 |
NC_000001.9:g.17600386G>C | NCBI36 |
NG_032943.1:g.34058G>C | |
NG_032943.2:g.34058G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.1950G>C MANE Select | ENSP00000483125.1:p.Leu650Phe | |
NM_207421.4:c.1950G>C MANE Select | NP_997304.3:p.Leu650Phe |