HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42402938A>G , CM000679.2:g.42402938A>G | GRCh38 |
NC_000017.10:g.40554956A>G , CM000679.1:g.40554956A>G | GRCh37 |
NC_000017.9:g.37808482A>G | NCBI36 |
NG_015845.1:g.25383T>C | |
NG_015845.2:g.25383T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000357037.6:c.*1749T>C MANE Select | ENSP00000349541.4:n.*1749T>C | |
ENST00000357037.5:c.*1749T>C | ENSP00000349541.4:n.*1749T>C | |
NM_012232.5:c.*1749T>C | NP_036364.2:n.*1749T>C | |
NM_012232.6:c.*1749T>C MANE Select | NP_036364.2:n.*1749T>C |