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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909586G= , CM000663.2:g.173909586G=
GRCh38
NC_000001.10:g.173878724G= , CM000663.1:g.173878724G=
GRCh37
NC_000001.9:g.172145347G=
NCBI36
NG_012462.1:g.12793C= , LRG_577:g.12793C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1119C=
MANE Select
ENSP00000356671.3:p.Val373=
ENST00000367698.3:c.1119C=
ENSP00000356671.3:p.Val373=
ENST00000617423.4:c.560-2093C=
ENSP00000478688.1:n.560-2093C=
NM_000488.3:c.1119C= , LRG_577t1:c.1119C=
NP_000479.1:p.Val373=
XM_005245198.2:c.975C=
XP_005245255.1:p.Val325=
NM_001365052.1:c.975C=
NP_001351981.1:p.Val325=
NM_000488.4:c.1119C=
MANE Select
NP_000479.1:p.Val373=
NM_001365052.2:c.975C=
NP_001351981.1:p.Val325=
NM_001386302.1:c.1242C=
NP_001373231.1:p.Val414=
NM_001386303.1:c.1200C=
NP_001373232.1:p.Val400=
NM_001386304.1:c.1098C=
NP_001373233.1:p.Val366=
NM_001386305.1:c.1062C=
NP_001373234.1:p.Val354=
NM_001386306.1:c.903C=
NP_001373235.1:p.Val301=