HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27924511C>T , CM000675.2:g.27924511C>T | GRCh38 |
NC_000013.10:g.28498648C>T , CM000675.1:g.28498648C>T | GRCh37 |
NC_000013.9:g.27396648C>T | NCBI36 |
NG_008183.1:g.9481C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.662C>T MANE Select | ENSP00000370421.4:p.Ala221Val | |
ENST00000381033.4:c.662C>T | ENSP00000370421.4:p.Ala221Val | |
NM_000209.3:c.662C>T | NP_000200.1:p.Ala221Val | |
NM_000209.4:c.662C>T MANE Select | NP_000200.1:p.Ala221Val |