HGVS | Genome Assembly |
---|---|
NC_000012.12:g.101753418T>G , CM000674.2:g.101753418T>G | GRCh38 |
NC_000012.11:g.102147196T>G , CM000674.1:g.102147196T>G | GRCh37 |
NC_000012.10:g.100671327T>G | NCBI36 |
NG_021243.1:g.82450A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299314.12:c.3556A>C MANE Select | ENSP00000299314.7:p.Arg1186= | |
ENST00000299314.11:c.3556A>C | ENSP00000299314.7:p.Arg1186= | |
ENST00000549738.5:c.454A>C | ENSP00000450161.1:n.454A>C | |
NM_024312.4:c.3556A>C | NP_077288.2:p.Arg1186= | |
XM_011538731.1:c.3475A>C | XP_011537033.1:p.Arg1159= | |
XM_011538731.2:c.3475A>C | XP_011537033.1:p.Arg1159= | |
XM_017019961.1:c.3340A>C | XP_016875450.1:p.Arg1114= | |
XM_017019962.2:c.2329A>C | XP_016875451.1:p.Arg777= | |
NM_024312.5:c.3556A>C MANE Select | NP_077288.2:p.Arg1186= |