HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835475G>A , CM000670.2:g.117835475G>A | GRCh38 |
NC_000008.10:g.118847714G>A , CM000670.1:g.118847714G>A | GRCh37 |
NC_000008.9:g.118916895G>A | NCBI36 |
NG_007455.2:g.281345C>T , LRG_493:g.281345C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.600C>T | ||
ENST00000378204.7:c.1133C>T MANE Select | ENSP00000367446.3:p.Ala378Val | |
ENST00000436216.2:c.501C>T | ||
ENST00000378204.6:c.1133C>T | ENSP00000367446.2:p.Ala378Val | |
ENST00000436216.1:c.501C>T | ||
ENST00000437196.1:c.*24C>T | ENSP00000407299.1:n.*24C>T | |
NM_000127.2:c.1133C>T , LRG_493t1:c.1133C>T | NP_000118.2:p.Ala378Val | |
NM_000127.3:c.1133C>T MANE Select | NP_000118.2:p.Ala378Val |