HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45984316A>T , CM000683.2:g.45984316A>T | GRCh38 |
NC_000021.8:g.47404230A>T , CM000683.1:g.47404230A>T | GRCh37 |
NC_000021.7:g.46228658A>T | NCBI36 |
NG_008674.1:g.7568A>T , LRG_475:g.7568A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.275A>T MANE Select | ENSP00000355180.3:p.His92Leu | |
ENST00000361866.7:c.275A>T | ENSP00000355180.3:p.His92Leu | |
ENST00000612273.1:c.275A>T | ENSP00000483630.1:p.His92Leu | |
NM_001848.2:c.275A>T , LRG_475t1:c.275A>T | NP_001839.2:p.His92Leu | |
NM_001848.3:c.275A>T MANE Select | NP_001839.2:p.His92Leu |