HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135961474C>T , CM000664.2:g.135961474C>T | GRCh38 |
NC_000002.11:g.136719044C>T , CM000664.1:g.136719044C>T | GRCh37 |
NC_000002.10:g.136435514C>T | NCBI36 |
NG_034149.1:g.29211G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264161.9:c.242G>A MANE Select | ENSP00000264161.4:p.Arg81His | |
ENST00000264161.8:c.242G>A | ENSP00000264161.4:p.Arg81His | |
ENST00000435076.1:c.337G>A | ||
ENST00000441323.5:c.143G>A | ENSP00000389867.1:p.Arg48His | |
ENST00000449218.5:c.143G>A | ENSP00000388801.1:p.Arg48His | |
ENST00000456565.5:c.143G>A | ENSP00000397616.1:p.Arg48His | |
ENST00000463008.1:n.239G>A | ||
NM_001293312.1:c.-59G>A | NP_001280241.1:n.-59G>A | |
NM_001349.3:c.242G>A | NP_001340.2:p.Arg81His | |
NM_001349.4:c.242G>A MANE Select | NP_001340.2:p.Arg81His |