HGVS | Genome Assembly |
---|---|
NC_000012.12:g.101753374T>C , CM000674.2:g.101753374T>C | GRCh38 |
NC_000012.11:g.102147152T>C , CM000674.1:g.102147152T>C | GRCh37 |
NC_000012.10:g.100671283T>C | NCBI36 |
NG_021243.1:g.82494A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299314.12:c.3600A>G MANE Select | ENSP00000299314.7:p.Glu1200= | |
ENST00000299314.11:c.3600A>G | ENSP00000299314.7:p.Glu1200= | |
ENST00000549738.5:c.498A>G | ENSP00000450161.1:n.498A>G | |
NM_024312.4:c.3600A>G | NP_077288.2:p.Glu1200= | |
XM_011538731.1:c.3519A>G | XP_011537033.1:p.Glu1173= | |
XM_011538731.2:c.3519A>G | XP_011537033.1:p.Glu1173= | |
XM_017019961.1:c.3384A>G | XP_016875450.1:p.Glu1128= | |
XM_017019962.2:c.2373A>G | XP_016875451.1:p.Glu791= | |
NM_024312.5:c.3600A>G MANE Select | NP_077288.2:p.Glu1200= |