HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215675398A= , CM000663.2:g.215675398A= | GRCh38 |
NC_000001.10:g.215848740A= , CM000663.1:g.215848740A= | GRCh37 |
NC_000001.9:g.213915363A= | NCBI36 |
NG_009497.1:g.752999T= | |
NG_009497.2:g.753051T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.12513T= MANE Select | ENSP00000305941.3:p.Val4171= | |
ENST00000674083.1:c.12513T= | ENSP00000501296.1:p.Val4171= | |
ENST00000307340.7:c.12513T= | ENSP00000305941.3:p.Val4171= | |
NM_206933.2:c.12513T= | NP_996816.2:p.Val4171= | |
NM_206933.3:c.12513T= | NP_996816.2:p.Val4171= | |
NM_206933.4:c.12513T= MANE Select | NP_996816.3:p.Val4171= |