HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68670088A>C , CM000666.2:g.68670088A>C | GRCh38 |
NC_000004.11:g.69535806A>C , CM000666.1:g.69535806A>C | GRCh37 |
NC_000004.10:g.69218401A>C | NCBI36 |
NG_052676.1:g.5689T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.531T>G MANE Select | ENSP00000341045.5:p.Val177= | |
ENST00000338206.5:c.531T>G | ENSP00000341045.5:p.Val177= | |
ENST00000616841.4:c.531T>G | ENSP00000482004.1:p.Val177= | |
NM_001076.3:c.531T>G | NP_001067.2:p.Val177= | |
NM_001076.4:c.531T>G MANE Select | NP_001067.2:p.Val177= |