HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119669893A>T , CM000672.2:g.119669893A>T | GRCh38 |
NC_000010.10:g.121429405A>T , CM000672.1:g.121429405A>T | GRCh37 |
NC_000010.9:g.121419395A>T | NCBI36 |
NG_016125.1:g.23524A>T , LRG_742:g.23524A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369085.8:c.223A>T MANE Select | ENSP00000358081.4:p.Arg75Trp | |
ENST00000369085.7:c.223A>T | ENSP00000358081.3:p.Arg75Trp | |
ENST00000450186.1:c.49A>T | ENSP00000410036.1:p.Arg17Trp | |
NM_004281.3:c.223A>T , LRG_742t1:c.223A>T | NP_004272.2:p.Arg75Trp | |
XM_005270287.1:c.223A>T | XP_005270344.1:p.Arg75Trp | |
XM_005270287.2:c.223A>T | XP_005270344.1:p.Arg75Trp | |
NM_004281.4:c.223A>T MANE Select | NP_004272.2:p.Arg75Trp |