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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909832A>C , CM000663.2:g.173909832A>C
GRCh38
NC_000001.10:g.173878970A>C , CM000663.1:g.173878970A>C
GRCh37
NC_000001.9:g.172145593A>C
NCBI36
NG_012462.1:g.12547T>G , LRG_577:g.12547T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.873T>G
MANE Select
ENSP00000356671.3:p.Arg291=
ENST00000367698.3:c.873T>G
ENSP00000356671.3:p.Arg291=
ENST00000487183.1:n.524T>G
ENST00000617423.4:c.559+2032T>G
ENSP00000478688.1:n.559+2032T>G
NM_000488.3:c.873T>G , LRG_577t1:c.873T>G
NP_000479.1:p.Arg291=
XM_005245198.2:c.729T>G
XP_005245255.1:p.Arg243=
NM_001365052.1:c.729T>G
NP_001351981.1:p.Arg243=
NM_000488.4:c.873T>G
MANE Select
NP_000479.1:p.Arg291=
NM_001365052.2:c.729T>G
NP_001351981.1:p.Arg243=
NM_001386302.1:c.996T>G
NP_001373231.1:p.Arg332=
NM_001386303.1:c.954T>G
NP_001373232.1:p.Arg318=
NM_001386304.1:c.852T>G
NP_001373233.1:p.Arg284=
NM_001386305.1:c.816T>G
NP_001373234.1:p.Arg272=
NM_001386306.1:c.657T>G
NP_001373235.1:p.Arg219=