HGVS | Genome Assembly |
---|---|
NC_000012.12:g.101753409G>T , CM000674.2:g.101753409G>T | GRCh38 |
NC_000012.11:g.102147187G>T , CM000674.1:g.102147187G>T | GRCh37 |
NC_000012.10:g.100671318G>T | NCBI36 |
NG_021243.1:g.82459C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299314.12:c.3565C>A MANE Select | ENSP00000299314.7:p.Arg1189= | |
ENST00000299314.11:c.3565C>A | ENSP00000299314.7:p.Arg1189= | |
ENST00000549738.5:c.463C>A | ENSP00000450161.1:n.463C>A | |
NM_024312.4:c.3565C>A | NP_077288.2:p.Arg1189= | |
XM_011538731.1:c.3484C>A | XP_011537033.1:p.Arg1162= | |
XM_011538731.2:c.3484C>A | XP_011537033.1:p.Arg1162= | |
XM_017019961.1:c.3349C>A | XP_016875450.1:p.Arg1117= | |
XM_017019962.2:c.2338C>A | XP_016875451.1:p.Arg780= | |
NM_024312.5:c.3565C>A MANE Select | NP_077288.2:p.Arg1189= |