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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173904044C= , CM000663.2:g.173904044C=
GRCh38
NC_000001.10:g.173873182C= , CM000663.1:g.173873182C=
GRCh37
NC_000001.9:g.172139805C=
NCBI36
NG_012462.1:g.18335G= , LRG_577:g.18335G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1240G=
MANE Select
ENSP00000356671.3:p.Ala414=
ENST00000367698.3:c.1240G=
ENSP00000356671.3:p.Ala414=
ENST00000617423.4:c.625G=
ENSP00000478688.1:p.Ala209=
NM_000488.3:c.1240G= , LRG_577t1:c.1240G=
NP_000479.1:p.Ala414=
XM_005245198.2:c.1096G=
XP_005245255.1:p.Ala366=
NM_001365052.1:c.1096G=
NP_001351981.1:p.Ala366=
NM_000488.4:c.1240G=
MANE Select
NP_000479.1:p.Ala414=
NM_001365052.2:c.1096G=
NP_001351981.1:p.Ala366=
NM_001386302.1:c.1363G=
NP_001373231.1:p.Ala455=
NM_001386303.1:c.1321G=
NP_001373232.1:p.Ala441=
NM_001386304.1:c.1219G=
NP_001373233.1:p.Ala407=
NM_001386305.1:c.1183G=
NP_001373234.1:p.Ala395=
NM_001386306.1:c.1024G=
NP_001373235.1:p.Ala342=