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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127428843T= , CM000664.2:g.127428843T=
GRCh38
NC_000002.11:g.128186419T= , CM000664.1:g.128186419T=
GRCh37
NC_000002.10:g.127902889T=
NCBI36
NG_016323.1:g.15424T= , LRG_599:g.15424T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.1283T=
MANE Select
ENSP00000234071.4:p.Leu428=
ENST00000234071.7:c.1283T=
ENSP00000234071.3:p.Leu428=
ENST00000402125.2:c.607T=
ENST00000409048.1:c.1385T=
ENSP00000386679.1:p.Leu462=
NM_000312.3:c.1283T= , LRG_599t1:c.1283T=
NP_000303.1:p.Leu428=
XM_005263715.3:c.1466T=
XP_005263772.1:p.Leu489=
XM_005263716.3:c.1448T=
XP_005263773.1:p.Leu483=
XM_005263717.3:c.1346T=
XP_005263774.1:p.Leu449=
XR_923313.1:n.1332-579A=
XM_005263717.4:c.1346T=
XP_005263774.1:p.Leu449=
XM_017004505.1:c.1526T=
XP_016859994.1:p.Leu509=
XM_024453002.1:c.1628T=
XP_024308770.1:p.Leu543=
XM_024453003.1:c.1568T=
XP_024308771.1:p.Leu523=
XM_024453004.1:c.1466T=
XP_024308772.1:p.Leu489=
XM_024453005.1:c.1448T=
XP_024308773.1:p.Leu483=
XM_024453006.1:c.1385T=
XP_024308774.1:p.Leu462=
XR_001739705.1:n.3607-579A=
XR_923313.2:n.4043-579A=
NM_000312.4:c.1283T=
MANE Select
NP_000303.1:p.Leu428=
NM_001375602.1:c.1466T=
NP_001362531.1:p.Leu489=
NM_001375603.1:c.1448T=
NP_001362532.1:p.Leu483=
NM_001375604.1:c.1346T=
NP_001362533.1:p.Leu449=
NM_001375605.1:c.1385T=
NP_001362534.1:p.Leu462=
NM_001375606.1:c.1451T=
NP_001362535.1:p.Leu484=
NM_001375607.1:c.1469T=
NP_001362536.1:p.Leu490=
NM_001375608.1:c.1226T=
NP_001362537.1:p.Leu409=
NM_001375609.1:c.1259T=
NP_001362538.1:p.Leu420=
NM_001375610.1:c.1277T=
NP_001362539.1:p.Leu426=
NM_001375611.1:c.1283T=
NP_001362540.1:p.Leu428=
NM_001375613.1:c.1283T=
NP_001362542.1:p.Leu428=