HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835474G= , CM000670.2:g.117835474G= | GRCh38 |
NC_000008.10:g.118847713G= , CM000670.1:g.118847713G= | GRCh37 |
NC_000008.9:g.118916894G= | NCBI36 |
NG_007455.2:g.281346C= , LRG_493:g.281346C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.601C= | ||
ENST00000378204.7:c.1134C= MANE Select | ENSP00000367446.3:p.Ala378= | |
ENST00000436216.2:c.502C= | ||
ENST00000378204.6:c.1134C= | ENSP00000367446.2:p.Ala378= | |
ENST00000436216.1:c.502C= | ||
ENST00000437196.1:c.*25C= | ENSP00000407299.1:n.*25C= | |
NM_000127.2:c.1134C= , LRG_493t1:c.1134C= | NP_000118.2:p.Ala378= | |
NM_000127.3:c.1134C= MANE Select | NP_000118.2:p.Ala378= |