HGVS | Genome Assembly |
---|---|
NC_000014.9:g.49625718C>T , CM000676.2:g.49625718C>T | GRCh38 |
NC_000014.8:g.50092436C>T , CM000676.1:g.50092436C>T | GRCh37 |
NC_000014.7:g.49162186C>T | NCBI36 |
NG_013070.1:g.14513G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298292.13:c.2338G>A MANE Select | ENSP00000298292.8:p.Glu780Lys | |
ENST00000298292.12:c.2338G>A | ENSP00000298292.8:p.Glu780Lys | |
ENST00000406043.3:c.2194G>A | ENSP00000384862.3:p.Glu732Lys | |
NM_001083908.1:c.2194G>A | NP_001077377.1:p.Glu732Lys | |
NM_018139.2:c.2338G>A | NP_060609.2:p.Glu780Lys | |
NM_001083908.2:c.2194G>A | NP_001077377.1:p.Glu732Lys | |
NM_001378453.1:c.127G>A | NP_001365382.1:p.Glu43Lys | |
NM_018139.3:c.2338G>A MANE Select | NP_060609.2:p.Glu780Lys |