HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835551C>T , CM000670.2:g.117835551C>T | GRCh38 |
NC_000008.10:g.118847790C>T , CM000670.1:g.118847790C>T | GRCh37 |
NC_000008.9:g.118916971C>T | NCBI36 |
NG_007455.2:g.281269G>A , LRG_493:g.281269G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.524G>A | ||
ENST00000378204.7:c.1057G>A MANE Select | ENSP00000367446.3:p.Ala353Thr | |
ENST00000436216.2:c.425G>A | ||
ENST00000378204.6:c.1057G>A | ENSP00000367446.2:p.Ala353Thr | |
ENST00000436216.1:c.425G>A | ||
ENST00000437196.1:c.74G>A | ENSP00000407299.1:p.Gly25Asp | |
NM_000127.2:c.1057G>A , LRG_493t1:c.1057G>A | NP_000118.2:p.Ala353Thr | |
NM_000127.3:c.1057G>A MANE Select | NP_000118.2:p.Ala353Thr |