HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451580T= , CM000674.2:g.52451580T= | GRCh38 |
NC_000012.11:g.52845364T= , CM000674.1:g.52845364T= | GRCh37 |
NC_000012.10:g.51131631T= | NCBI36 |
NG_008299.1:g.5547A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.499A= MANE Select | ENSP00000252252.3:p.Ile167= | |
ENST00000252252.3:c.499A= | ENSP00000252252.3:p.Ile167= | |
NM_005555.3:c.499A= | NP_005546.2:p.Ile167= | |
NM_005555.4:c.499A= MANE Select | NP_005546.2:p.Ile167= |