HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835479C= , CM000670.2:g.117835479C= | GRCh38 |
NC_000008.10:g.118847718C= , CM000670.1:g.118847718C= | GRCh37 |
NC_000008.9:g.118916899C= | NCBI36 |
NG_007455.2:g.281341G= , LRG_493:g.281341G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.596G= | ||
ENST00000378204.7:c.1129G= MANE Select | ENSP00000367446.3:p.Ala377= | |
ENST00000436216.2:c.497G= | ||
ENST00000378204.6:c.1129G= | ENSP00000367446.2:p.Ala377= | |
ENST00000436216.1:c.497G= | ||
ENST00000437196.1:c.*20G= | ENSP00000407299.1:n.*20G= | |
NM_000127.2:c.1129G= , LRG_493t1:c.1129G= | NP_000118.2:p.Ala377= | |
NM_000127.3:c.1129G= MANE Select | NP_000118.2:p.Ala377= |