HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787230G>A , CM000686.2:g.2787230G>A | GRCh38 |
NC_000024.9:g.2655271G>A , CM000686.1:g.2655271G>A | GRCh37 |
NC_000024.8:g.2715271G>A | NCBI36 |
NG_011751.1:g.5522C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+12491G>A | ||
ENST00000679825.1:n.342G>A | ||
ENST00000680285.1:n.320-2519G>A | ||
ENST00000680845.1:n.165+177G>A | ||
ENST00000681787.1:n.106+12491G>A | ||
ENST00000681940.1:n.106+12491G>A | ||
ENST00000383070.2:c.374C>T MANE Select | ENSP00000372547.1:p.Pro125Leu | |
ENST00000383070.1:c.374C>T | ENSP00000372547.1:p.Pro125Leu | |
NM_003140.2:c.374C>T | NP_003131.1:p.Pro125Leu | |
NM_003140.3:c.374C>T MANE Select | NP_003131.1:p.Pro125Leu |