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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127428476G= , CM000664.2:g.127428476G=
GRCh38
NC_000002.11:g.128186052G= , CM000664.1:g.128186052G=
GRCh37
NC_000002.10:g.127902522G=
NCBI36
NG_016323.1:g.15057G= , LRG_599:g.15057G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.916G=
MANE Select
ENSP00000234071.4:p.Ala306=
ENST00000234071.7:c.916G=
ENSP00000234071.3:p.Ala306=
ENST00000402125.2:c.240G=
ENST00000409048.1:c.1018G=
ENSP00000386679.1:p.Ala340=
NM_000312.3:c.916G= , LRG_599t1:c.916G=
NP_000303.1:p.Ala306=
XM_005263715.3:c.1099G=
XP_005263772.1:p.Ala367=
XM_005263716.3:c.1081G=
XP_005263773.1:p.Ala361=
XM_005263717.3:c.979G=
XP_005263774.1:p.Ala327=
XR_923313.1:n.1332-212C=
XM_005263717.4:c.979G=
XP_005263774.1:p.Ala327=
XM_017004505.1:c.1159G=
XP_016859994.1:p.Ala387=
XM_024453002.1:c.1261G=
XP_024308770.1:p.Ala421=
XM_024453003.1:c.1201G=
XP_024308771.1:p.Ala401=
XM_024453004.1:c.1099G=
XP_024308772.1:p.Ala367=
XM_024453005.1:c.1081G=
XP_024308773.1:p.Ala361=
XM_024453006.1:c.1018G=
XP_024308774.1:p.Ala340=
XR_001739705.1:n.3607-212C=
XR_923313.2:n.4043-212C=
NM_000312.4:c.916G=
MANE Select
NP_000303.1:p.Ala306=
NM_001375602.1:c.1099G=
NP_001362531.1:p.Ala367=
NM_001375603.1:c.1081G=
NP_001362532.1:p.Ala361=
NM_001375604.1:c.979G=
NP_001362533.1:p.Ala327=
NM_001375605.1:c.1018G=
NP_001362534.1:p.Ala340=
NM_001375606.1:c.1084G=
NP_001362535.1:p.Ala362=
NM_001375607.1:c.1102G=
NP_001362536.1:p.Ala368=
NM_001375608.1:c.859G=
NP_001362537.1:p.Ala287=
NM_001375609.1:c.892G=
NP_001362538.1:p.Ala298=
NM_001375610.1:c.910G=
NP_001362539.1:p.Ala304=
NM_001375611.1:c.916G=
NP_001362540.1:p.Ala306=
NM_001375613.1:c.916G=
NP_001362542.1:p.Ala306=