HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3857763T>G , CM000682.2:g.3857763T>G | GRCh38 |
NC_000020.10:g.3838410T>G , CM000682.1:g.3838410T>G | GRCh37 |
NC_000020.9:g.3786410T>G | NCBI36 |
NG_030028.1:g.15965T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000428216.4:c.246T>G MANE Select | ENSP00000401980.2:p.Val82= | |
ENST00000416600.6:c.-132+3022T>G | ENSP00000413749.2:n.-132+3022T>G | |
ENST00000428216.3:c.246T>G | ENSP00000401980.2:p.Val82= | |
NM_001206491.1:c.-132+3022T>G | NP_001193420.1:n.-132+3022T>G | |
NM_020746.4:c.246T>G | NP_065797.2:p.Val82= | |
NR_037921.1:n.418T>G | ||
NM_020746.5:c.246T>G MANE Select | NP_065797.2:p.Val82= | |
NR_037921.2:n.383T>G | ||
NM_001206491.2:c.-132+3022T>G | NP_001193420.1:n.-132+3022T>G | |
NM_001385663.1:c.-302T>G | NP_001372592.1:n.-302T>G |