HGVS | Genome Assembly |
---|---|
NC_000015.10:g.67065907T= , CM000677.2:g.67065907T= | GRCh38 |
NC_000015.9:g.67358245T= , CM000677.1:g.67358245T= | GRCh37 |
NC_000015.8:g.65145299T= | NCBI36 |
NG_011990.1:g.5051T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559460.6:c.-110+1963T= | ENSP00000453082.2:n.-110+1963T= | |
ENST00000560424.2:c.-248T= | ENSP00000455540.2:n.-248T= | |
ENST00000327367.9:c.-248T= MANE Select | ENSP00000332973.4:n.-248T= | |
ENST00000327367.8:c.-248T= | ENSP00000332973.4:n.-248T= | |
ENST00000559460.5:c.-110+1963T= | ENSP00000453082.1:n.-110+1963T= | |
NM_005902.3:c.-248T= | NP_005893.1:n.-248T= | |
XM_011521559.1:c.-248T= | XP_011519861.1:n.-248T= | |
NM_005902.4:c.-248T= MANE Select | NP_005893.1:n.-248T= |