HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832751C= , CM000673.2:g.116832751C= | GRCh38 |
NC_000011.9:g.116703467C= , CM000673.1:g.116703467C= | GRCh37 |
NC_000011.8:g.116208677C= | NCBI36 |
NG_008949.1:g.7844C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227667.8:c.180-13C= MANE Select | ENSP00000227667.2:n.180-13C= | |
ENST00000227667.7:c.180-13C= | ENSP00000227667.2:n.180-13C= | |
ENST00000375345.3:c.234-13C= | ENSP00000364494.1:n.234-13C= | |
ENST00000630701.1:c.234-13C= | ENSP00000486182.1:n.234-13C= | |
NM_000040.1:c.180-13C= | NP_000031.1:n.180-13C= | |
NM_000040.2:c.180-13C= | NP_000031.1:n.180-13C= | |
NM_000040.3:c.180-13C= MANE Select | NP_000031.1:n.180-13C= |