HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137566710G>A , CM000685.2:g.137566710G>A | GRCh38 |
NC_000023.10:g.136648869G>A , CM000685.1:g.136648869G>A | GRCh37 |
NC_000023.9:g.136476535G>A | NCBI36 |
NG_008115.1:g.5524G>A | |
NG_008115.2:g.5584G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.19G>A MANE Select | ENSP00000287538.5:p.Gly7Arg | |
ENST00000287538.9:c.19G>A | ENSP00000287538.5:p.Gly7Arg | |
ENST00000370606.3:c.19G>A | ENSP00000359638.3:p.Gly7Arg | |
NM_003413.3:c.19G>A | NP_003404.1:p.Gly7Arg | |
NM_001330661.1:c.19G>A | NP_001317590.1:p.Gly7Arg | |
NM_003413.4:c.19G>A MANE Select | NP_003404.1:p.Gly7Arg |