HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914299G>C , CM000674.2:g.110914299G>C | GRCh38 |
NC_000012.11:g.111352103G>C , CM000674.1:g.111352103G>C | GRCh37 |
NC_000012.10:g.109836486G>C | NCBI36 |
NG_007554.1:g.11279C>G , LRG_393:g.11279C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228841.15:c.170-9C>G MANE Select | ENSP00000228841.8:n.170-9C>G | |
ENST00000663220.1:c.113-9C>G | ENSP00000499568.1:n.113-9C>G | |
ENST00000228841.12:c.170-9C>G | ENSP00000228841.7:n.170-9C>G | |
ENST00000548438.1:c.119C>G | ENSP00000447154.1:p.Pro40Arg | |
NM_000432.3:c.170-9C>G , LRG_393t1:c.170-9C>G | NP_000423.2:n.170-9C>G | |
NM_000432.4:c.170-9C>G MANE Select | NP_000423.2:n.170-9C>G |