HGVS | Genome Assembly |
---|---|
NC_000009.12:g.104599179G>A , CM000671.2:g.104599179G>A | GRCh38 |
NC_000009.11:g.107361460G>A , CM000671.1:g.107361460G>A | GRCh37 |
NC_000009.10:g.106401281G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374779.3:c.235C>T MANE Select | ENSP00000363911.2:p.Pro79Ser | |
NM_001004482.1:c.235C>T MANE Select | NP_001004482.1:p.Pro79Ser |