HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451450T= , CM000674.2:g.52451450T= | GRCh38 |
NC_000012.11:g.52845234T= , CM000674.1:g.52845234T= | GRCh37 |
NC_000012.10:g.51131501T= | NCBI36 |
NG_008299.1:g.5677A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.540+89A= MANE Select | ENSP00000252252.3:n.540+89A= | |
ENST00000252252.3:c.540+89A= | ENSP00000252252.3:n.540+89A= | |
NM_005555.3:c.540+89A= | NP_005546.2:n.540+89A= | |
NM_005555.4:c.540+89A= MANE Select | NP_005546.2:n.540+89A= |