HGVS | Genome Assembly |
---|---|
NC_000014.9:g.49622097A>T , CM000676.2:g.49622097A>T | GRCh38 |
NC_000014.8:g.50088815A>T , CM000676.1:g.50088815A>T | GRCh37 |
NC_000014.7:g.49158565A>T | NCBI36 |
NG_008920.1:g.6327A>T | |
NG_033054.1:g.3535T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305386.4:c.829A>T MANE Select | ENSP00000307423.2:p.Lys277Ter | |
ENST00000305386.3:c.829A>T | ENSP00000307423.2:p.Lys277Ter | |
NM_002408.3:c.829A>T | NP_002399.1:p.Lys277Ter | |
NM_002408.4:c.829A>T MANE Select | NP_002399.1:p.Lys277Ter |