HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55052750T>G , CM000663.2:g.55052750T>G | GRCh38 |
NC_000001.10:g.55518423T>G , CM000663.1:g.55518423T>G | GRCh37 |
NC_000001.9:g.55291011T>G | NCBI36 |
NG_009061.1:g.18204T>G , LRG_275:g.18204T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000673913.2:c.758T>G | ENSP00000501161.2:p.Leu253Arg | |
ENST00000710286.1:c.1115T>G | ENSP00000518176.1:p.Leu372Arg | |
ENST00000673903.1:c.383T>G | ENSP00000501257.1:p.Leu128Arg | |
ENST00000302118.5:c.758T>G MANE Select | ENSP00000303208.5:p.Leu253Arg | |
ENST00000490692.1:n.1579T>G | ||
NM_174936.3:c.758T>G , LRG_275t1:c.758T>G | NP_777596.2:p.Leu253Arg | |
NR_110451.1:n.417T>G | ||
NM_174936.4:c.758T>G MANE Select | NP_777596.2:p.Leu253Arg | |
NR_110451.2:n.417T>G |