HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755366C>G , CM000679.2:g.43755366C>G | GRCh38 |
NC_000017.10:g.41832734C>G , CM000679.1:g.41832734C>G | GRCh37 |
NC_000017.9:g.39188260C>G | NCBI36 |
NG_008078.2:g.8423G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.618G>C MANE Select | ENSP00000301691.1:p.Gln206His | |
ENST00000301691.2:c.618G>C | ENSP00000301691.1:p.Gln206His | |
NM_025237.2:c.618G>C | NP_079513.1:p.Gln206His | |
NM_025237.3:c.618G>C MANE Select | NP_079513.1:p.Gln206His |