HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15180220T>A , CM000681.2:g.15180220T>A | GRCh38 |
NC_000019.9:g.15291031T>A , CM000681.1:g.15291031T>A | GRCh37 |
NC_000019.8:g.15152031T>A | NCBI36 |
NG_009819.1:g.25762A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263388.7:c.3179A>T MANE Select | ENSP00000263388.1:p.Gln1060Leu | |
ENST00000263388.6:c.3179A>T | ENSP00000263388.1:p.Gln1060Leu | |
ENST00000601011.1:c.3020A>T | ENSP00000473138.1:p.Gln1007Leu | |
NM_000435.2:c.3179A>T | NP_000426.2:p.Gln1060Leu | |
XM_005259924.3:c.3023A>T | XP_005259981.1:p.Gln1008Leu | |
XM_005259924.4:c.3023A>T | XP_005259981.1:p.Gln1008Leu | |
NM_000435.3:c.3179A>T MANE Select | NP_000426.2:p.Gln1060Leu |