HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45989106T>A , CM000683.2:g.45989106T>A | GRCh38 |
NC_000021.8:g.47409020T>A , CM000683.1:g.47409020T>A | GRCh37 |
NC_000021.7:g.46233448T>A | NCBI36 |
NG_008674.1:g.12358T>A , LRG_475:g.12358T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361866.8:c.827T>A MANE Select | ENSP00000355180.3:p.Leu276His | |
ENST00000361866.7:c.827T>A | ENSP00000355180.3:p.Leu276His | |
ENST00000612273.1:c.827T>A | ENSP00000483630.1:p.Leu276His | |
NM_001848.2:c.827T>A , LRG_475t1:c.827T>A | NP_001839.2:p.Leu276His | |
NM_001848.3:c.827T>A MANE Select | NP_001839.2:p.Leu276His |