HGVS | Genome Assembly |
---|---|
NC_000014.9:g.49621885T>A , CM000676.2:g.49621885T>A | GRCh38 |
NC_000014.8:g.50088603T>A , CM000676.1:g.50088603T>A | GRCh37 |
NC_000014.7:g.49158353T>A | NCBI36 |
NG_008920.1:g.6115T>A | |
NG_033054.1:g.3747A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000305386.4:c.617T>A MANE Select | ENSP00000307423.2:p.Leu206Ter | |
ENST00000305386.3:c.617T>A | ENSP00000307423.2:p.Leu206Ter | |
NM_002408.3:c.617T>A | NP_002399.1:p.Leu206Ter | |
NM_002408.4:c.617T>A MANE Select | NP_002399.1:p.Leu206Ter |