HGVS | Genome Assembly |
---|---|
NC_000014.9:g.74259772G>A , CM000676.2:g.74259772G>A | GRCh38 |
NC_000014.8:g.74726475G>A , CM000676.1:g.74726475G>A | GRCh37 |
NC_000014.7:g.73796228G>A | NCBI36 |
NG_013092.1:g.25301G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261980.3:c.750G>A MANE Select | ENSP00000261980.2:p.Pro250= | |
ENST00000261980.2:c.750G>A | ENSP00000261980.2:p.Pro250= | |
NM_182894.2:c.750G>A | NP_878314.1:p.Pro250= | |
XM_011536719.1:c.750G>A | XP_011535021.1:p.Pro250= | |
NM_182894.3:c.750G>A MANE Select | NP_878314.1:p.Pro250= |