HGVS | Genome Assembly |
---|---|
NC_000003.12:g.191375438T>G , CM000665.2:g.191375438T>G | GRCh38 |
NC_000003.11:g.191093227T>G , CM000665.1:g.191093227T>G | GRCh37 |
NC_000003.10:g.192575921T>G | NCBI36 |
NG_008994.1:g.51354T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392455.9:c.825T>G MANE Select | ENSP00000376249.4:p.Leu275= | |
ENST00000392456.4:c.449-4721T>G | ENSP00000376250.4:n.449-4721T>G | |
ENST00000392455.7:c.449-4721T>G | ENSP00000376249.3:n.449-4721T>G | |
ENST00000392456.3:c.825T>G | ENSP00000376250.3:p.Leu275= | |
NM_174908.3:c.449-4721T>G | NP_777568.1:n.449-4721T>G | |
NM_178335.2:c.825T>G | NP_848018.1:p.Leu275= | |
XM_011512460.1:c.825T>G | XP_011510762.1:p.Leu275= | |
NM_178335.3:c.825T>G MANE Select | NP_848018.1:p.Leu275= | |
NM_174908.4:c.449-4721T>G | NP_777568.1:n.449-4721T>G |