HGVS | Genome Assembly |
---|---|
NC_000001.11:g.202318112G>A , CM000663.2:g.202318112G>A | GRCh38 |
NC_000001.10:g.202287240G>A , CM000663.1:g.202287240G>A | GRCh37 |
NC_000001.9:g.200553863G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367278.8:c.1809G>A MANE Select | ENSP00000356247.3:p.Ala603= | |
ENST00000255432.11:c.1653G>A | ENSP00000255432.7:p.Ala551= | |
ENST00000367278.7:c.1809G>A | ENSP00000356247.3:p.Ala603= | |
ENST00000439764.2:c.1392G>A | ENSP00000387869.2:p.Ala464= | |
ENST00000487787.5:c.*709G>A | ENSP00000422143.1:n.*709G>A | |
NM_001017403.1:c.1809G>A | NP_001017403.1:p.Ala603= | |
NM_001017404.1:c.1392G>A | NP_001017404.1:p.Ala464= | |
NM_021636.2:c.1653G>A | NP_067649.2:p.Ala551= | |
XM_005245404.2:c.1680G>A | XP_005245461.1:p.Ala560= | |
XM_011509838.1:c.1608G>A | XP_011508140.1:p.Ala536= | |
XM_011509839.1:c.1608G>A | XP_011508141.1:p.Ala536= | |
XM_011509840.1:c.1464G>A | XP_011508142.1:p.Ala488= | |
XM_011509841.1:c.1407G>A | XP_011508143.1:p.Ala469= | |
XM_011509842.1:c.1239G>A | XP_011508144.1:p.Ala413= | |
XM_011509843.1:c.1239G>A | XP_011508145.1:p.Ala413= | |
XM_011509844.1:c.1032G>A | XP_011508146.1:p.Ala344= | |
XM_011509845.1:c.978G>A | XP_011508147.1:p.Ala326= | |
XM_011509846.1:c.1239G>A | XP_011508148.1:p.Ala413= | |
XM_005245404.3:c.1680G>A | XP_005245461.1:p.Ala560= | |
XM_011509838.2:c.1608G>A | XP_011508140.1:p.Ala536= | |
XM_011509839.2:c.1608G>A | XP_011508141.1:p.Ala536= | |
XM_011509840.2:c.1464G>A | XP_011508142.1:p.Ala488= | |
XM_011509841.2:c.1407G>A | XP_011508143.1:p.Ala469= | |
XM_011509842.2:c.1239G>A | XP_011508144.1:p.Ala413= | |
XM_011509843.2:c.1239G>A | XP_011508145.1:p.Ala413= | |
XM_011509844.2:c.1032G>A | XP_011508146.1:p.Ala344= | |
XM_011509846.2:c.1239G>A | XP_011508148.1:p.Ala413= | |
XM_017001996.1:c.1536G>A | XP_016857485.1:p.Ala512= | |
XM_017001997.1:c.1407G>A | XP_016857486.1:p.Ala469= | |
XM_017001998.1:c.735G>A | XP_016857487.1:p.Ala245= | |
NM_021636.3:c.1653G>A | NP_067649.2:p.Ala551= | |
NM_001017403.2:c.1809G>A MANE Select | NP_001017403.1:p.Ala603= | |
NM_001017404.2:c.1392G>A | NP_001017404.1:p.Ala464= |