HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44249166C>T , CM000679.2:g.44249166C>T | GRCh38 |
NC_000017.10:g.42326534C>T , CM000679.1:g.42326534C>T | GRCh37 |
NC_000017.9:g.39682060C>T | NCBI36 |
NG_007498.1:g.23969G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262418.12:c.*1292G>A MANE Select | ENSP00000262418.6:n.*1292G>A | |
ENST00000262418.10:c.*1292G>A | ENSP00000262418.6:n.*1292G>A | |
ENST00000399246.3:c.*1292G>A | ENSP00000382190.3:n.*1292G>A | |
ENST00000631130.1:c.39G>A | ENSP00000486787.1:p.Arg13= | |
NM_000342.3:c.*1292G>A | NP_000333.1:n.*1292G>A | |
XM_005257593.3:c.*1292G>A | XP_005257650.1:n.*1292G>A | |
XM_011525129.1:c.*1292G>A | XP_011523431.1:n.*1292G>A | |
NM_000342.4:c.*1292G>A MANE Select | NP_000333.1:n.*1292G>A |