HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530318G>C , CM000681.2:g.7530318G>C | GRCh38 |
NC_000019.9:g.7595204G>C , CM000681.1:g.7595204G>C | GRCh37 |
NC_000019.8:g.7501204G>C | NCBI36 |
NG_013374.1:g.1167G>C | |
NG_015806.1:g.12709G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1392G>C MANE Select | ENSP00000264079.5:p.Leu464= | |
ENST00000264079.10:c.1392G>C | ENSP00000264079.5:p.Leu464= | |
ENST00000394321.9:n.1707G>C | ||
ENST00000594692.1:n.388G>C | ||
ENST00000595860.5:n.575G>C | ||
ENST00000599334.1:c.237-117G>C | ||
NM_020533.2:c.1392G>C | NP_065394.1:p.Leu464= | |
NM_020533.3:c.1392G>C MANE Select | NP_065394.1:p.Leu464= |