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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173904021C>A , CM000663.2:g.173904021C>A
GRCh38
NC_000001.10:g.173873159C>A , CM000663.1:g.173873159C>A
GRCh37
NC_000001.9:g.172139782C>A
NCBI36
NG_012462.1:g.18358G>T , LRG_577:g.18358G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1263G>T
MANE Select
ENSP00000356671.3:p.Val421=
ENST00000367698.3:c.1263G>T
ENSP00000356671.3:p.Val421=
ENST00000617423.4:c.648G>T
ENSP00000478688.1:p.Val216=
NM_000488.3:c.1263G>T , LRG_577t1:c.1263G>T
NP_000479.1:p.Val421=
XM_005245198.2:c.1119G>T
XP_005245255.1:p.Val373=
NM_001365052.1:c.1119G>T
NP_001351981.1:p.Val373=
NM_000488.4:c.1263G>T
MANE Select
NP_000479.1:p.Val421=
NM_001365052.2:c.1119G>T
NP_001351981.1:p.Val373=
NM_001386302.1:c.1386G>T
NP_001373231.1:p.Val462=
NM_001386303.1:c.1344G>T
NP_001373232.1:p.Val448=
NM_001386304.1:c.1242G>T
NP_001373233.1:p.Val414=
NM_001386305.1:c.1206G>T
NP_001373234.1:p.Val402=
NM_001386306.1:c.1047G>T
NP_001373235.1:p.Val349=