HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119672344C>G , CM000672.2:g.119672344C>G | GRCh38 |
NC_000010.10:g.121431856C>G , CM000672.1:g.121431856C>G | GRCh37 |
NC_000010.9:g.121421846C>G | NCBI36 |
NG_016125.1:g.25975C>G , LRG_742:g.25975C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369085.8:c.597C>G MANE Select | ENSP00000358081.4:p.His199Gln | |
ENST00000369085.7:c.597C>G | ENSP00000358081.3:p.His199Gln | |
ENST00000450186.1:c.423C>G | ENSP00000410036.1:p.His141Gln | |
NM_004281.3:c.597C>G , LRG_742t1:c.597C>G | NP_004272.2:p.His199Gln | |
XM_005270287.1:c.597C>G | XP_005270344.1:p.His199Gln | |
XM_005270287.2:c.597C>G | XP_005270344.1:p.His199Gln | |
NM_004281.4:c.597C>G MANE Select | NP_004272.2:p.His199Gln |