HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44249168T>G , CM000679.2:g.44249168T>G | GRCh38 |
NC_000017.10:g.42326536T>G , CM000679.1:g.42326536T>G | GRCh37 |
NC_000017.9:g.39682062T>G | NCBI36 |
NG_007498.1:g.23967A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262418.12:c.*1290A>C MANE Select | ENSP00000262418.6:n.*1290A>C | |
ENST00000262418.10:c.*1290A>C | ENSP00000262418.6:n.*1290A>C | |
ENST00000399246.3:c.*1290A>C | ENSP00000382190.3:n.*1290A>C | |
ENST00000631130.1:c.37A>C | ENSP00000486787.1:p.Arg13= | |
NM_000342.3:c.*1290A>C | NP_000333.1:n.*1290A>C | |
XM_005257593.3:c.*1290A>C | XP_005257650.1:n.*1290A>C | |
XM_011525129.1:c.*1290A>C | XP_011523431.1:n.*1290A>C | |
NM_000342.4:c.*1290A>C MANE Select | NP_000333.1:n.*1290A>C |