HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73193296T>G , CM000679.2:g.73193296T>G | GRCh38 |
NC_000017.10:g.71189435T>G , CM000679.1:g.71189435T>G | GRCh37 |
NC_000017.9:g.68701030T>G | NCBI36 |
NG_008971.1:g.5263T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299886.9:c.227T>G MANE Select | ENSP00000299886.4:p.Leu76Arg | |
ENST00000299886.8:c.227T>G | ENSP00000299886.4:p.Leu76Arg | |
ENST00000438720.7:c.225T>G | ||
ENST00000582587.2:c.204T>G | ||
ENST00000618996.4:c.227T>G | ENSP00000479450.1:p.Leu76Arg | |
NM_018714.2:c.227T>G | NP_061184.1:p.Leu76Arg | |
NM_018714.3:c.227T>G MANE Select | NP_061184.1:p.Leu76Arg |