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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127428575G= , CM000664.2:g.127428575G=
GRCh38
NC_000002.11:g.128186151G= , CM000664.1:g.128186151G=
GRCh37
NC_000002.10:g.127902621G=
NCBI36
NG_016323.1:g.15156G= , LRG_599:g.15156G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.1015G=
MANE Select
ENSP00000234071.4:p.Val339=
ENST00000234071.7:c.1015G=
ENSP00000234071.3:p.Val339=
ENST00000402125.2:c.339G=
ENST00000409048.1:c.1117G=
ENSP00000386679.1:p.Val373=
NM_000312.3:c.1015G= , LRG_599t1:c.1015G=
NP_000303.1:p.Val339=
XM_005263715.3:c.1198G=
XP_005263772.1:p.Val400=
XM_005263716.3:c.1180G=
XP_005263773.1:p.Val394=
XM_005263717.3:c.1078G=
XP_005263774.1:p.Val360=
XR_923313.1:n.1332-311C=
XM_005263717.4:c.1078G=
XP_005263774.1:p.Val360=
XM_017004505.1:c.1258G=
XP_016859994.1:p.Val420=
XM_024453002.1:c.1360G=
XP_024308770.1:p.Val454=
XM_024453003.1:c.1300G=
XP_024308771.1:p.Val434=
XM_024453004.1:c.1198G=
XP_024308772.1:p.Val400=
XM_024453005.1:c.1180G=
XP_024308773.1:p.Val394=
XM_024453006.1:c.1117G=
XP_024308774.1:p.Val373=
XR_001739705.1:n.3607-311C=
XR_923313.2:n.4043-311C=
NM_000312.4:c.1015G=
MANE Select
NP_000303.1:p.Val339=
NM_001375602.1:c.1198G=
NP_001362531.1:p.Val400=
NM_001375603.1:c.1180G=
NP_001362532.1:p.Val394=
NM_001375604.1:c.1078G=
NP_001362533.1:p.Val360=
NM_001375605.1:c.1117G=
NP_001362534.1:p.Val373=
NM_001375606.1:c.1183G=
NP_001362535.1:p.Val395=
NM_001375607.1:c.1201G=
NP_001362536.1:p.Val401=
NM_001375608.1:c.958G=
NP_001362537.1:p.Val320=
NM_001375609.1:c.991G=
NP_001362538.1:p.Val331=
NM_001375610.1:c.1009G=
NP_001362539.1:p.Val337=
NM_001375611.1:c.1015G=
NP_001362540.1:p.Val339=
NM_001375613.1:c.1015G=
NP_001362542.1:p.Val339=