HGVS | Genome Assembly |
---|---|
NC_000010.11:g.3782241C>T , CM000672.2:g.3782241C>T | GRCh38 |
NC_000010.10:g.3824433C>T , CM000672.1:g.3824433C>T | GRCh37 |
NC_000010.9:g.3814433C>T | NCBI36 |
NG_012277.1:g.8041G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000497571.6:c.103-27G>A MANE Select | ENSP00000419923.1:n.103-27G>A | |
ENST00000380946.3:n.338-27G>A | ||
ENST00000469435.1:c.103-27G>A | ENSP00000419079.1:n.103-27G>A | |
ENST00000497571.5:c.103-27G>A | ENSP00000419923.1:n.103-27G>A | |
ENST00000542957.1:c.103-27G>A | ENSP00000445301.1:n.103-27G>A | |
NM_001160124.1:c.103-27G>A | NP_001153596.1:n.103-27G>A | |
NM_001160125.1:c.103-27G>A | NP_001153597.1:n.103-27G>A | |
NM_001300.5:c.103-27G>A | NP_001291.3:n.103-27G>A | |
NR_027653.1:n.370-27G>A | ||
NM_001300.6:c.103-27G>A MANE Select | NP_001291.3:n.103-27G>A | |
NM_001160124.2:c.103-27G>A | NP_001153596.1:n.103-27G>A | |
NR_027653.2:n.298-27G>A | ||
NM_001160125.2:c.103-27G>A | NP_001153597.1:n.103-27G>A |