HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3857766T>C , CM000682.2:g.3857766T>C | GRCh38 |
NC_000020.10:g.3838413T>C , CM000682.1:g.3838413T>C | GRCh37 |
NC_000020.9:g.3786413T>C | NCBI36 |
NG_030028.1:g.15968T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000428216.4:c.249T>C MANE Select | ENSP00000401980.2:p.Asp83= | |
ENST00000416600.6:c.-132+3025T>C | ENSP00000413749.2:n.-132+3025T>C | |
ENST00000428216.3:c.249T>C | ENSP00000401980.2:p.Asp83= | |
NM_001206491.1:c.-132+3025T>C | NP_001193420.1:n.-132+3025T>C | |
NM_020746.4:c.249T>C | NP_065797.2:p.Asp83= | |
NR_037921.1:n.421T>C | ||
NM_020746.5:c.249T>C MANE Select | NP_065797.2:p.Asp83= | |
NR_037921.2:n.386T>C | ||
NM_001206491.2:c.-132+3025T>C | NP_001193420.1:n.-132+3025T>C | |
NM_001385663.1:c.-299T>C | NP_001372592.1:n.-299T>C |