HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52675413C>T , CM000674.2:g.52675413C>T | GRCh38 |
NC_000012.11:g.53069197C>T , CM000674.1:g.53069197C>T | GRCh37 |
NC_000012.10:g.51355464C>T | NCBI36 |
NG_008364.1:g.9995G>A | |
NG_008364.2:g.9995G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252244.3:c.1715G>A MANE Select | ENSP00000252244.3:p.Gly572Asp | |
NM_006121.3:c.1715G>A | NP_006112.3:p.Gly572Asp | |
NM_006121.4:c.1715G>A MANE Select | NP_006112.3:p.Gly572Asp |