HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835538G>A , CM000670.2:g.117835538G>A | GRCh38 |
NC_000008.10:g.118847777G>A , CM000670.1:g.118847777G>A | GRCh37 |
NC_000008.9:g.118916958G>A | NCBI36 |
NG_007455.2:g.281282C>T , LRG_493:g.281282C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.537C>T | ||
ENST00000378204.7:c.1070C>T MANE Select | ENSP00000367446.3:p.Pro357Leu | |
ENST00000436216.2:c.438C>T | ||
ENST00000378204.6:c.1070C>T | ENSP00000367446.2:p.Pro357Leu | |
ENST00000436216.1:c.438C>T | ||
ENST00000437196.1:c.87C>T | ENSP00000407299.1:p.Pro29= | |
NM_000127.2:c.1070C>T , LRG_493t1:c.1070C>T | NP_000118.2:p.Pro357Leu | |
NM_000127.3:c.1070C>T MANE Select | NP_000118.2:p.Pro357Leu |