HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755661T>C , CM000679.2:g.43755661T>C | GRCh38 |
NC_000017.10:g.41833029T>C , CM000679.1:g.41833029T>C | GRCh37 |
NC_000017.9:g.39188555T>C | NCBI36 |
NG_008078.2:g.8128A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.323A>G MANE Select | ENSP00000301691.1:p.Gln108Arg | |
ENST00000301691.2:c.323A>G | ENSP00000301691.1:p.Gln108Arg | |
NM_025237.2:c.323A>G | NP_079513.1:p.Gln108Arg | |
NM_025237.3:c.323A>G MANE Select | NP_079513.1:p.Gln108Arg |