HGVS | Genome Assembly |
---|---|
NC_000019.10:g.615985C>A , CM000681.2:g.615985C>A | GRCh38 |
NC_000019.9:g.615985C>A , CM000681.1:g.615985C>A | GRCh37 |
NC_000019.8:g.566985C>A | NCBI36 |
NG_023049.1:g.22584G>T | |
NG_052810.1:g.31093C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251287.3:c.2181C>A MANE Select | ENSP00000251287.1:p.Ile727= | |
ENST00000251287.2:c.2181C>A | ENSP00000251287.1:p.Ile727= | |
NM_001194.3:c.2181C>A | NP_001185.3:p.Ile727= | |
NM_001194.4:c.2181C>A MANE Select | NP_001185.3:p.Ile727= |