HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80273473T>C , CM000672.2:g.80273473T>C | GRCh38 |
NC_000010.10:g.82033229T>C , CM000672.1:g.82033229T>C | GRCh37 |
NC_000010.9:g.82023209T>C | NCBI36 |
NG_008083.1:g.21206A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.*308A>G MANE Select | ENSP00000361287.3:n.*308A>G | |
ENST00000372213.7:c.*308A>G | ENSP00000361287.3:n.*308A>G | |
ENST00000480845.1:n.620+108A>G | ||
ENST00000485270.5:n.1008A>G | ||
NM_000429.2:c.*308A>G | NP_000420.1:n.*308A>G | |
XM_005269842.3:c.*308A>G | XP_005269899.1:n.*308A>G | |
XM_005269843.3:c.*308A>G | XP_005269900.1:n.*308A>G | |
NM_000429.3:c.*308A>G MANE Select | NP_000420.1:n.*308A>G |