HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52433805A>T , CM000674.2:g.52433805A>T | GRCh38 |
NC_000012.11:g.52827589A>T , CM000674.1:g.52827589A>T | GRCh37 |
NC_000012.10:g.51113856A>T | NCBI36 |
NG_008403.1:g.5522T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252245.6:c.498+2T>A MANE Select | ENSP00000252245.5:n.498+2T>A | |
ENST00000252245.5:c.498+2T>A | ENSP00000252245.5:n.498+2T>A | |
NM_004693.2:c.498+2T>A | NP_004684.2:n.498+2T>A | |
NM_004693.3:c.498+2T>A MANE Select | NP_004684.2:n.498+2T>A |