HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42536695T= , CM000679.2:g.42536695T= | GRCh38 |
NC_000017.10:g.40688713T= , CM000679.1:g.40688713T= | GRCh37 |
NC_000017.9:g.37942239T= | NCBI36 |
NG_011552.1:g.5763T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225927.7:c.383+40T= MANE Select | ENSP00000225927.1:n.383+40T= | |
ENST00000225927.6:c.383+40T= | ENSP00000225927.1:n.383+40T= | |
ENST00000586516.5:c.133+40T= | ||
ENST00000591587.1:c.126+40T= | ENSP00000467836.1:n.126+40T= | |
NM_000263.3:c.383+40T= | NP_000254.2:n.383+40T= | |
XM_006721920.2:c.-360+40T= | XP_006721983.1:n.-360+40T= | |
XM_011524840.1:c.-360+40T= | XP_011523142.1:n.-360+40T= | |
XM_024450771.1:c.383+40T= | XP_024306539.1:n.383+40T= | |
NM_000263.4:c.383+40T= MANE Select | NP_000254.2:n.383+40T= |