HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94422747T>G , CM000669.2:g.94422747T>G | GRCh38 |
NC_000007.13:g.94052059T>G , CM000669.1:g.94052059T>G | GRCh37 |
NC_000007.12:g.93889995T>G | NCBI36 |
NG_007405.1:g.33187T>G , LRG_2:g.33187T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2404-210T>G MANE Select | ENSP00000297268.6:n.2404-210T>G | |
ENST00000297268.10:c.2404-210T>G | ENSP00000297268.6:n.2404-210T>G | |
ENST00000481570.5:n.277T>G | ||
ENST00000497316.5:n.801-210T>G | ||
ENST00000620463.1:c.2398-210T>G | ENSP00000477719.1:n.2398-210T>G | |
NM_000089.3:c.2404-210T>G , LRG_2t1:c.2404-210T>G | NP_000080.2:n.2404-210T>G | |
NM_000089.4:c.2404-210T>G MANE Select | NP_000080.2:n.2404-210T>G |