HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102843756C>A , CM000674.2:g.102843756C>A | GRCh38 |
NC_000012.11:g.103237534C>A , CM000674.1:g.103237534C>A | GRCh37 |
NC_000012.10:g.101761664C>A | NCBI36 |
NG_008690.1:g.78847G>T | |
NG_008690.2:g.119655G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553106.6:c.1089G>T MANE Select | ENSP00000448059.1:p.Lys363Asn | |
ENST00000307000.7:c.1074G>T | ENSP00000303500.2:p.Lys358Asn | |
ENST00000549247.6:n.848G>T | ||
ENST00000551114.2:n.751G>T | ||
ENST00000553106.5:c.1089G>T | ENSP00000448059.1:p.Lys363Asn | |
ENST00000635477.1:c.193G>T | ||
ENST00000635528.1:n.604G>T | ||
NM_000277.1:c.1089G>T | NP_000268.1:p.Lys363Asn | |
XM_011538422.1:c.1032G>T | XP_011536724.1:p.Lys344Asn | |
NM_000277.2:c.1089G>T | NP_000268.1:p.Lys363Asn | |
NM_001354304.1:c.1089G>T | NP_001341233.1:p.Lys363Asn | |
NM_000277.3:c.1089G>T MANE Select | NP_000268.1:p.Lys363Asn | |
NM_001354304.2:c.1089G>T | NP_001341233.1:p.Lys363Asn |