HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110913286C>G , CM000674.2:g.110913286C>G | GRCh38 |
NC_000012.11:g.111351090C>G , CM000674.1:g.111351090C>G | GRCh37 |
NC_000012.10:g.109835473C>G | NCBI36 |
NG_007554.1:g.12292G>C , LRG_393:g.12292G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228841.15:c.313G>C MANE Select | ENSP00000228841.8:p.Val105Leu | |
ENST00000663220.1:c.256G>C | ENSP00000499568.1:p.Val86Leu | |
ENST00000228841.12:c.313G>C | ENSP00000228841.7:p.Val105Leu | |
ENST00000548438.1:c.271G>C | ENSP00000447154.1:p.Val91Leu | |
ENST00000549029.1:n.144G>C | ||
NM_000432.3:c.313G>C , LRG_393t1:c.313G>C | NP_000423.2:p.Val105Leu | |
NM_000432.4:c.313G>C MANE Select | NP_000423.2:p.Val105Leu |