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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186285657T= , CM000666.2:g.186285657T=
GRCh38
NC_000004.11:g.187206811T= , CM000666.1:g.187206811T=
GRCh37
NC_000004.10:g.187443805T=
NCBI36
NG_008051.1:g.24694T= , LRG_583:g.24694T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1324T=
MANE Select
ENSP00000384957.2:p.Leu442=
ENST00000264691.4:c.20T=
ENST00000264692.8:c.1162T=
ENSP00000264692.5:p.Leu388=
ENST00000403665.6:c.1324T=
ENSP00000384957.2:p.Leu442=
NM_000128.3:c.1324T= , LRG_583t1:c.1324T=
NP_000119.1:p.Leu442=
XM_005262821.2:c.1327T=
XP_005262878.1:p.Leu443=
XM_005262822.2:c.1327T=
XP_005262879.1:p.Leu443=
XM_005262823.2:c.1057T=
XP_005262880.1:p.Leu353=
XM_005262824.1:c.1327T=
XP_005262881.1:p.Leu443=
XM_006714137.1:c.1279T=
XP_006714200.1:p.Leu427=
XR_938706.1:n.1732T=
XR_938707.1:n.1732T=
XM_005262821.4:c.1327T=
XP_005262878.1:p.Leu443=
XM_005262822.4:c.1327T=
XP_005262879.1:p.Leu443=
XM_005262823.4:c.1057T=
XP_005262880.1:p.Leu353=
XM_006714137.3:c.1279T=
XP_006714200.1:p.Leu427=
XR_001741172.2:n.1798T=
NM_000128.4:c.1324T=
MANE Select
NP_000119.1:p.Leu442=