HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983432A= , CM000678.2:g.56983432A= | GRCh38 |
NC_000016.9:g.57017344A= , CM000678.1:g.57017344A= | GRCh37 |
NC_000016.8:g.55574845A= | NCBI36 |
NG_008952.1:g.26510A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000200676.8:c.1407+21A= MANE Select | ENSP00000200676.3:n.1407+21A= | |
ENST00000200676.7:c.1407+21A= | ENSP00000200676.3:n.1407+21A= | |
ENST00000379780.6:c.1227+21A= | ENSP00000369106.2:n.1227+21A= | |
ENST00000566128.1:c.1212+21A= | ENSP00000456276.1:n.1212+21A= | |
NM_000078.2:c.1407+21A= | NP_000069.2:n.1407+21A= | |
NM_001286085.1:c.1227+21A= | NP_001273014.1:n.1227+21A= | |
NM_000078.3:c.1407+21A= MANE Select | NP_000069.2:n.1407+21A= | |
NM_001286085.2:c.1227+21A= | NP_001273014.1:n.1227+21A= |