HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119670043G>C , CM000672.2:g.119670043G>C | GRCh38 |
NC_000010.10:g.121429555G>C , CM000672.1:g.121429555G>C | GRCh37 |
NC_000010.9:g.121419545G>C | NCBI36 |
NG_016125.1:g.23674G>C , LRG_742:g.23674G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369085.8:c.373G>C MANE Select | ENSP00000358081.4:p.Glu125Gln | |
ENST00000369085.7:c.373G>C | ENSP00000358081.3:p.Glu125Gln | |
ENST00000450186.1:c.199G>C | ENSP00000410036.1:p.Glu67Gln | |
NM_004281.3:c.373G>C , LRG_742t1:c.373G>C | NP_004272.2:p.Glu125Gln | |
XM_005270287.1:c.373G>C | XP_005270344.1:p.Glu125Gln | |
XM_005270287.2:c.373G>C | XP_005270344.1:p.Glu125Gln | |
NM_004281.4:c.373G>C MANE Select | NP_004272.2:p.Glu125Gln |