HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835528G>A , CM000670.2:g.117835528G>A | GRCh38 |
NC_000008.10:g.118847767G>A , CM000670.1:g.118847767G>A | GRCh37 |
NC_000008.9:g.118916948G>A | NCBI36 |
NG_007455.2:g.281292C>T , LRG_493:g.281292C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.547C>T | ||
ENST00000378204.7:c.1080C>T MANE Select | ENSP00000367446.3:p.Leu360= | |
ENST00000436216.2:c.448C>T | ||
ENST00000378204.6:c.1080C>T | ENSP00000367446.2:p.Leu360= | |
ENST00000436216.1:c.448C>T | ||
ENST00000437196.1:c.97C>T | ENSP00000407299.1:p.Gln33Ter | |
NM_000127.2:c.1080C>T , LRG_493t1:c.1080C>T | NP_000118.2:p.Leu360= | |
NM_000127.3:c.1080C>T MANE Select | NP_000118.2:p.Leu360= |