HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530377A>T , CM000681.2:g.7530377A>T | GRCh38 |
NC_000019.9:g.7595263A>T , CM000681.1:g.7595263A>T | GRCh37 |
NC_000019.8:g.7501263A>T | NCBI36 |
NG_013374.1:g.1226A>T | |
NG_015806.1:g.12768A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1451A>T MANE Select | ENSP00000264079.5:p.Gln484Leu | |
ENST00000264079.10:c.1451A>T | ENSP00000264079.5:p.Gln484Leu | |
ENST00000394321.9:n.1766A>T | ||
ENST00000594692.1:n.447A>T | ||
ENST00000595860.5:n.634A>T | ||
ENST00000599334.1:c.237-58A>T | ||
NM_020533.2:c.1451A>T | NP_065394.1:p.Gln484Leu | |
NM_020533.3:c.1451A>T MANE Select | NP_065394.1:p.Gln484Leu |