HGVS | Genome Assembly |
---|---|
NC_000003.12:g.30691504C>A , CM000665.2:g.30691504C>A | GRCh38 |
NC_000003.11:g.30732996C>A , CM000665.1:g.30732996C>A | GRCh37 |
NC_000003.10:g.30708000C>A | NCBI36 |
NG_007490.1:g.90003C>A , LRG_779:g.90003C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295754.10:c.1609C>A MANE Select | ENSP00000295754.5:p.Arg537Ser | |
ENST00000672050.1:n.493C>A | ||
ENST00000672866.1:n.3205C>A | ||
ENST00000673203.1:n.487C>A | ||
ENST00000295754.9:c.1609C>A | ENSP00000295754.5:p.Arg537Ser | |
ENST00000359013.4:c.1684C>A | ENSP00000351905.4:p.Arg562Ser | |
NM_001024847.2:c.1684C>A , LRG_779t1:c.1684C>A | NP_001020018.1:p.Arg562Ser | |
NM_003242.5:c.1609C>A | NP_003233.4:p.Arg537Ser | |
XM_011534043.1:c.1636C>A | XP_011532345.1:p.Arg546Ser | |
XM_011534044.1:c.1561C>A | XP_011532346.1:p.Arg521Ser | |
XM_011534045.1:c.1504C>A | XP_011532347.1:p.Arg502Ser | |
XM_011534043.2:c.1636C>A | XP_011532345.1:p.Arg546Ser | |
XM_011534045.3:c.1504C>A | XP_011532347.1:p.Arg502Ser | |
XM_017007106.1:c.1504C>A | XP_016862595.1:p.Arg502Ser | |
NM_003242.6:c.1609C>A MANE Select | NP_003233.4:p.Arg537Ser |