HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119672560G>T , CM000672.2:g.119672560G>T | GRCh38 |
NC_000010.10:g.121432072G>T , CM000672.1:g.121432072G>T | GRCh37 |
NC_000010.9:g.121422062G>T | NCBI36 |
NG_016125.1:g.26191G>T , LRG_742:g.26191G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369085.8:c.813G>T MANE Select | ENSP00000358081.4:p.Gln271His | |
ENST00000369085.7:c.813G>T | ENSP00000358081.3:p.Gln271His | |
ENST00000450186.1:c.639G>T | ENSP00000410036.1:p.Gln213His | |
NM_004281.3:c.813G>T , LRG_742t1:c.813G>T | NP_004272.2:p.Gln271His | |
XM_005270287.1:c.813G>T | XP_005270344.1:p.Gln271His | |
XM_005270287.2:c.813G>T | XP_005270344.1:p.Gln271His | |
NM_004281.4:c.813G>T MANE Select | NP_004272.2:p.Gln271His |