HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3857664A>T , CM000682.2:g.3857664A>T | GRCh38 |
NC_000020.10:g.3838311A>T , CM000682.1:g.3838311A>T | GRCh37 |
NC_000020.9:g.3786311A>T | NCBI36 |
NG_030028.1:g.15866A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000428216.4:c.147A>T MANE Select | ENSP00000401980.2:p.Ser49= | |
ENST00000416600.6:c.-132+2923A>T | ENSP00000413749.2:n.-132+2923A>T | |
ENST00000428216.3:c.147A>T | ENSP00000401980.2:p.Ser49= | |
NM_001206491.1:c.-132+2923A>T | NP_001193420.1:n.-132+2923A>T | |
NM_020746.4:c.147A>T | NP_065797.2:p.Ser49= | |
NR_037921.1:n.319A>T | ||
NM_020746.5:c.147A>T MANE Select | NP_065797.2:p.Ser49= | |
NR_037921.2:n.284A>T | ||
NM_001206491.2:c.-132+2923A>T | NP_001193420.1:n.-132+2923A>T | |
NM_001385663.1:c.-401A>T | NP_001372592.1:n.-401A>T |