HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99851541C>G , CM000672.2:g.99851541C>G | GRCh38 |
NC_000010.10:g.101611298C>G , CM000672.1:g.101611298C>G | GRCh37 |
NC_000010.9:g.101601288C>G | NCBI36 |
NG_011798.1:g.73836C>G | |
NG_011798.2:g.73944C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647814.1:c.4548C>G MANE Select | ENSP00000497274.1:p.Gly1516= | |
ENST00000648523.1:c.618C>G | ||
ENST00000370449.8:c.4548C>G | ENSP00000359478.4:p.Gly1516= | |
NM_000392.4:c.4548C>G | NP_000383.1:p.Gly1516= | |
XM_006717630.2:c.3852C>G | XP_006717693.1:p.Gly1284= | |
NM_000392.5:c.4548C>G MANE Select | NP_000383.2:p.Gly1516= | |
XM_006717630.3:c.3852C>G | XP_006717693.1:p.Gly1284= |