HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215998953T= , CM000663.2:g.215998953T= | GRCh38 |
NC_000001.10:g.216172295T= , CM000663.1:g.216172295T= | GRCh37 |
NC_000001.9:g.214238918T= | NCBI36 |
NG_009497.1:g.429444A= | |
NG_009497.2:g.429496A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.6591A= MANE Select | ENSP00000305941.3:p.Thr2197= | |
ENST00000674083.1:c.6591A= | ENSP00000501296.1:p.Thr2197= | |
ENST00000307340.7:c.6591A= | ENSP00000305941.3:p.Thr2197= | |
NM_206933.2:c.6591A= | NP_996816.2:p.Thr2197= | |
NM_206933.3:c.6591A= | NP_996816.2:p.Thr2197= | |
NM_206933.4:c.6591A= MANE Select | NP_996816.3:p.Thr2197= |