HGVS | Genome Assembly |
---|---|
NC_000023.11:g.18672025C>A , CM000685.2:g.18672025C>A | GRCh38 |
NC_000023.10:g.18690145C>A , CM000685.1:g.18690145C>A | GRCh37 |
NC_000023.9:g.18600066C>A | NCBI36 |
NG_008659.3:g.10424G>T , LRG_702:g.10424G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379984.4:c.44G>T MANE Select | ENSP00000369320.3:p.Gly15Val | |
ENST00000379984.3:c.44G>T | ENSP00000369320.3:p.Gly15Val | |
NM_000330.3:c.44G>T , LRG_702t1:c.44G>T | NP_000321.1:p.Gly15Val | |
NM_000330.4:c.44G>T MANE Select | NP_000321.1:p.Gly15Val |