HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119669897T>A , CM000672.2:g.119669897T>A | GRCh38 |
NC_000010.10:g.121429409T>A , CM000672.1:g.121429409T>A | GRCh37 |
NC_000010.9:g.121419399T>A | NCBI36 |
NG_016125.1:g.23528T>A , LRG_742:g.23528T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369085.8:c.227T>A MANE Select | ENSP00000358081.4:p.Leu76Gln | |
ENST00000369085.7:c.227T>A | ENSP00000358081.3:p.Leu76Gln | |
ENST00000450186.1:c.53T>A | ENSP00000410036.1:p.Leu18Gln | |
NM_004281.3:c.227T>A , LRG_742t1:c.227T>A | NP_004272.2:p.Leu76Gln | |
XM_005270287.1:c.227T>A | XP_005270344.1:p.Leu76Gln | |
XM_005270287.2:c.227T>A | XP_005270344.1:p.Leu76Gln | |
NM_004281.4:c.227T>A MANE Select | NP_004272.2:p.Leu76Gln |