HGVS | Genome Assembly |
---|---|
NC_000023.11:g.114849062T>C , CM000685.2:g.114849062T>C | GRCh38 |
NC_000023.10:g.114083625T>C , CM000685.1:g.114083625T>C | GRCh37 |
NC_000023.9:g.113989881T>C | NCBI36 |
NG_012082.2:g.269978T>C | |
NG_012082.3:g.269978T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276198.6:c.550+859T>C MANE Select | ENSP00000276198.1:n.550+859T>C | |
ENST00000276198.5:c.550+859T>C | ENSP00000276198.1:n.550+859T>C | |
ENST00000371950.3:c.455+954T>C | ENSP00000361018.3:n.455+954T>C | |
ENST00000371951.5:c.550+859T>C | ENSP00000361019.1:n.550+859T>C | |
NM_000868.3:c.550+859T>C | NP_000859.1:n.550+859T>C | |
NM_001256760.2:c.550+859T>C | NP_001243689.1:n.550+859T>C | |
NM_001256761.2:c.455+954T>C | NP_001243690.1:n.455+954T>C | |
NM_000868.4:c.550+859T>C MANE Select | NP_000859.2:n.550+859T>C | |
NM_001256760.3:c.550+859T>C | NP_001243689.2:n.550+859T>C | |
NM_001256761.3:c.455+954T>C | NP_001243690.2:n.455+954T>C |