HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835545A= , CM000670.2:g.117835545A= | GRCh38 |
NC_000008.10:g.118847784A= , CM000670.1:g.118847784A= | GRCh37 |
NC_000008.9:g.118916965A= | NCBI36 |
NG_007455.2:g.281275T= , LRG_493:g.281275T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.530T= | ||
ENST00000378204.7:c.1063T= MANE Select | ENSP00000367446.3:p.Cys355= | |
ENST00000436216.2:c.431T= | ||
ENST00000378204.6:c.1063T= | ENSP00000367446.2:p.Cys355= | |
ENST00000436216.1:c.431T= | ||
ENST00000437196.1:c.80T= | ENSP00000407299.1:p.Leu27= | |
NM_000127.2:c.1063T= , LRG_493t1:c.1063T= | NP_000118.2:p.Cys355= | |
NM_000127.3:c.1063T= MANE Select | NP_000118.2:p.Cys355= |