HGVS | Genome Assembly |
---|---|
NC_000015.10:g.67065912T= , CM000677.2:g.67065912T= | GRCh38 |
NC_000015.9:g.67358250T= , CM000677.1:g.67358250T= | GRCh37 |
NC_000015.8:g.65145304T= | NCBI36 |
NG_011990.1:g.5056T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559460.6:c.-110+1968T= | ENSP00000453082.2:n.-110+1968T= | |
ENST00000560424.2:c.-243T= | ENSP00000455540.2:n.-243T= | |
ENST00000327367.9:c.-243T= MANE Select | ENSP00000332973.4:n.-243T= | |
ENST00000327367.8:c.-243T= | ENSP00000332973.4:n.-243T= | |
ENST00000559460.5:c.-110+1968T= | ENSP00000453082.1:n.-110+1968T= | |
NM_005902.3:c.-243T= | NP_005893.1:n.-243T= | |
XM_011521559.1:c.-243T= | XP_011519861.1:n.-243T= | |
NM_005902.4:c.-243T= MANE Select | NP_005893.1:n.-243T= |