HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755357C>G , CM000679.2:g.43755357C>G | GRCh38 |
NC_000017.10:g.41832725C>G , CM000679.1:g.41832725C>G | GRCh37 |
NC_000017.9:g.39188251C>G | NCBI36 |
NG_008078.2:g.8432G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.627G>C MANE Select | ENSP00000301691.1:p.Leu209= | |
ENST00000301691.2:c.627G>C | ENSP00000301691.1:p.Leu209= | |
NM_025237.2:c.627G>C | NP_079513.1:p.Leu209= | |
NM_025237.3:c.627G>C MANE Select | NP_079513.1:p.Leu209= |