HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775789C>G , CM000672.2:g.94775789C>G | GRCh38 |
NC_000010.10:g.96535546C>G , CM000672.1:g.96535546C>G | GRCh37 |
NC_000010.9:g.96525536C>G | NCBI36 |
NG_008384.2:g.18084C>G | |
NG_008384.3:g.18109C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.481+250C>G MANE Select | ENSP00000360372.3:n.481+250C>G | |
ENST00000645461.1:n.1534+250C>G | ||
ENST00000371321.7:c.481+250C>G | ENSP00000360372.3:n.481+250C>G | |
ENST00000464755.1:c.1244+250C>G | ENSP00000483243.1:n.1244+250C>G | |
ENST00000480405.2:c.*242C>G | ENSP00000483847.1:n.*242C>G | |
NM_000769.2:c.481+250C>G | NP_000760.1:n.481+250C>G | |
NM_000769.4:c.481+250C>G MANE Select | NP_000760.1:n.481+250C>G |