HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56435308T>A , CM000674.2:g.56435308T>A | GRCh38 |
NC_000012.11:g.56829092T>A , CM000674.1:g.56829092T>A | GRCh37 |
NC_000012.10:g.55115359T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553532.6:c.-61-1077A>T MANE Select | ENSP00000450607.1:n.-61-1077A>T | |
ENST00000229201.4:c.-61-1077A>T | ENSP00000229201.4:n.-61-1077A>T | |
ENST00000553532.5:c.-61-1077A>T | ENSP00000450607.1:n.-61-1077A>T | |
NM_003920.3:c.-61-1077A>T | NP_003911.2:n.-61-1077A>T | |
XM_011538939.1:c.-61-1077A>T | XP_011537241.1:n.-61-1077A>T | |
NM_001330295.1:c.-61-1077A>T | NP_001317224.1:n.-61-1077A>T | |
NM_003920.4:c.-61-1077A>T | NP_003911.2:n.-61-1077A>T | |
NR_138471.1:n.157-1077A>T | ||
NM_003920.5:c.-61-1077A>T MANE Select | NP_003911.2:n.-61-1077A>T | |
NM_001330295.2:c.-61-1077A>T | NP_001317224.1:n.-61-1077A>T | |
NR_138471.2:n.118-1077A>T |