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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909634A>G , CM000663.2:g.173909634A>G
GRCh38
NC_000001.10:g.173878772A>G , CM000663.1:g.173878772A>G
GRCh37
NC_000001.9:g.172145395A>G
NCBI36
NG_012462.1:g.12745T>C , LRG_577:g.12745T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1071T>C
MANE Select
ENSP00000356671.3:p.Ile357=
ENST00000367698.3:c.1071T>C
ENSP00000356671.3:p.Ile357=
ENST00000617423.4:c.560-2141T>C
ENSP00000478688.1:n.560-2141T>C
NM_000488.3:c.1071T>C , LRG_577t1:c.1071T>C
NP_000479.1:p.Ile357=
XM_005245198.2:c.927T>C
XP_005245255.1:p.Ile309=
NM_001365052.1:c.927T>C
NP_001351981.1:p.Ile309=
NM_000488.4:c.1071T>C
MANE Select
NP_000479.1:p.Ile357=
NM_001365052.2:c.927T>C
NP_001351981.1:p.Ile309=
NM_001386302.1:c.1194T>C
NP_001373231.1:p.Ile398=
NM_001386303.1:c.1152T>C
NP_001373232.1:p.Ile384=
NM_001386304.1:c.1050T>C
NP_001373233.1:p.Ile350=
NM_001386305.1:c.1014T>C
NP_001373234.1:p.Ile338=
NM_001386306.1:c.855T>C
NP_001373235.1:p.Ile285=