HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47350491C= , CM000672.2:g.47350491C= | GRCh38 |
NC_000010.10:g.48388871G= , CM000672.1:g.48388871G= | GRCh37 |
NC_000010.9:g.48008877G= | NCBI36 |
NG_029718.1:g.7121C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.2007C= MANE Select | ENSP00000463151.1:p.Ala669= | |
ENST00000584701.1:c.2007C= | ENSP00000463151.1:p.Ala669= | |
NM_002900.2:c.2007C= | NP_002891.1:p.Ala669= | |
NM_002900.3:c.2007C= MANE Select | NP_002891.1:p.Ala669= |