HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914090T>C , CM000674.2:g.110914090T>C | GRCh38 |
NC_000012.11:g.111351894T>C , CM000674.1:g.111351894T>C | GRCh37 |
NC_000012.10:g.109836277T>C | NCBI36 |
NG_007554.1:g.11488A>G , LRG_393:g.11488A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228841.15:c.274+96A>G MANE Select | ENSP00000228841.8:n.274+96A>G | |
ENST00000663220.1:c.217+96A>G | ENSP00000499568.1:n.217+96A>G | |
ENST00000228841.12:c.274+96A>G | ENSP00000228841.7:n.274+96A>G | |
ENST00000548438.1:c.232+96A>G | ENSP00000447154.1:n.232+96A>G | |
ENST00000549029.1:n.105+96A>G | ||
NM_000432.3:c.274+96A>G , LRG_393t1:c.274+96A>G | NP_000423.2:n.274+96A>G | |
NM_000432.4:c.274+96A>G MANE Select | NP_000423.2:n.274+96A>G |