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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.44669314G= , CM000677.2:g.44669314G=
GRCh38
NC_000015.9:g.44961512G= , CM000677.1:g.44961512G=
GRCh37
NC_000015.8:g.42748804G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.1030C=
MANE Select
ENSP00000508024.1:p.Gln344=
ENST00000434130.6:c.1030C=
ENSP00000416673.1:p.Gln344=
ENST00000434130.5:c.1030C=
ENSP00000416673.1:p.Gln344=
ENST00000560775.5:c.1030C=
ENSP00000453915.1:p.Gln344=
ENST00000560780.1:c.463C=
ENSP00000453695.1:p.Gln155=
NM_001145112.1:c.1030C=
NP_001138584.1:p.Gln344=
XM_005254224.2:c.1030C=
XP_005254281.1:p.Gln344=
XM_011521336.1:c.1030C=
XP_011519638.1:p.Gln344=
XM_011521337.1:c.1021C=
XP_011519639.1:p.Gln341=
XM_011521338.1:c.1030C=
XP_011519640.1:p.Gln344=
XM_011521339.1:c.1030C=
XP_011519641.1:p.Gln344=
XM_011521340.1:c.1030C=
XP_011519642.1:p.Gln344=
XM_011521341.1:c.1030C=
XP_011519643.1:p.Gln344=
XM_011521342.1:c.808C=
XP_011519644.1:p.Gln270=
XM_011521343.1:c.778C=
XP_011519645.1:p.Gln260=
XM_011521344.1:c.778C=
XP_011519646.1:p.Gln260=
XM_011521345.1:c.769C=
XP_011519647.1:p.Gln257=
XM_011521346.1:c.595C=
XP_011519648.1:p.Gln199=
XM_011521347.1:c.463C=
XP_011519649.1:p.Gln155=
XM_011521348.1:c.463C=
XP_011519650.1:p.Gln155=
NM_001330283.1:c.463C=
NP_001317212.1:p.Gln155=
XM_011521336.2:c.1144C=
XP_011519638.2:p.Gln382=
XM_011521337.2:c.1135C=
XP_011519639.2:p.Gln379=
XM_011521338.3:c.1030C=
XP_011519640.1:p.Gln344=
XM_011521339.3:c.1030C=
XP_011519641.1:p.Gln344=
XM_011521340.3:c.1030C=
XP_011519642.1:p.Gln344=
XM_011521342.2:c.808C=
XP_011519644.1:p.Gln270=
XM_011521343.3:c.778C=
XP_011519645.1:p.Gln260=
XM_011521344.3:c.778C=
XP_011519646.1:p.Gln260=
XM_011521345.3:c.769C=
XP_011519647.1:p.Gln257=
XM_011521346.2:c.709C=
XP_011519648.2:p.Gln237=
XM_017022000.2:c.1144C=
XP_016877489.1:p.Gln382=
XM_017022001.2:c.769C=
XP_016877490.1:p.Gln257=
NM_001145112.2:c.1030C=
NP_001138584.1:p.Gln344=
NM_001330283.2:c.463C=
NP_001317212.1:p.Gln155=
NM_001387260.1:c.937C=
NP_001374189.1:p.Gln313=
NM_001387261.1:c.1030C=
NP_001374190.1:p.Gln344=
NM_001387262.1:c.1030C=
NP_001374191.1:p.Gln344=
NM_001387263.1:c.1030C=
MANE Select
NP_001374192.1:p.Gln344=
NM_001387264.1:c.937C=
NP_001374193.1:p.Gln313=