HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117837172G= , CM000670.2:g.117837172G= | GRCh38 |
NC_000008.10:g.118849411G= , CM000670.1:g.118849411G= | GRCh37 |
NC_000008.9:g.118918592G= | NCBI36 |
NG_007455.2:g.279648C= , LRG_493:g.279648C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.459C= | ||
ENST00000378204.7:c.992C= MANE Select | ENSP00000367446.3:p.Ala331= | |
ENST00000436216.2:c.360C= | ||
ENST00000378204.6:c.992C= | ENSP00000367446.2:p.Ala331= | |
ENST00000436216.1:c.360C= | ||
ENST00000437196.1:c.74-1621C= | ENSP00000407299.1:n.74-1621C= | |
NM_000127.2:c.992C= , LRG_493t1:c.992C= | NP_000118.2:p.Ala331= | |
NM_000127.3:c.992C= MANE Select | NP_000118.2:p.Ala331= |