HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40845001C>T , CM000681.2:g.40845001C>T | GRCh38 |
NC_000019.9:g.41350906C>T , CM000681.1:g.41350906C>T | GRCh37 |
NC_000019.8:g.46042746C>T | NCBI36 |
NG_008377.1:g.10447G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.1162-229G>A MANE Select | ENSP00000301141.4:n.1162-229G>A | |
ENST00000301141.9:c.1162-229G>A | ENSP00000301141.4:n.1162-229G>A | |
ENST00000596719.5:n.1305G>A | ||
ENST00000601627.1:c.119+43586C>T | ||
ENST00000610301.1:c.1162-229G>A | ENSP00000477899.1:n.1162-229G>A | |
NM_000762.5:c.1162-229G>A | NP_000753.3:n.1162-229G>A | |
NM_000762.6:c.1162-229G>A MANE Select | NP_000753.3:n.1162-229G>A |