HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530297C= , CM000681.2:g.7530297C= | GRCh38 |
NC_000019.9:g.7595183C= , CM000681.1:g.7595183C= | GRCh37 |
NC_000019.8:g.7501183C= | NCBI36 |
NG_013374.1:g.1146C= | |
NG_015806.1:g.12688C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.1371C= MANE Select | ENSP00000264079.5:p.Leu457= | |
ENST00000264079.10:c.1371C= | ENSP00000264079.5:p.Leu457= | |
ENST00000394321.9:n.1686C= | ||
ENST00000594692.1:n.367C= | ||
ENST00000595860.5:n.554C= | ||
ENST00000599334.1:c.237-138C= | ||
NM_020533.2:c.1371C= | NP_065394.1:p.Leu457= | |
NM_020533.3:c.1371C= MANE Select | NP_065394.1:p.Leu457= |