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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.154192012C>T , CM000663.2:g.154192012C>T
GRCh38
NC_000001.10:g.154164488C>T , CM000663.1:g.154164488C>T
GRCh37
NC_000001.9:g.152431112C>T
NCBI36
NG_008621.1:g.5122G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368530.7:c.7G>A
ENSP00000357516.3:p.Glu3Lys
ENST00000651641.1:c.7G>A
MANE Select
ENSP00000498577.1:p.Glu3Lys
ENST00000651644.1:c.7G>A
ENSP00000498648.1:p.Glu3Lys
ENST00000271850.11:c.7G>A
ENSP00000271850.7:p.Glu3Lys
ENST00000368530.6:c.7G>A
ENSP00000357516.2:p.Glu3Lys
ENST00000515609.1:c.7G>A
ENSP00000426306.1:p.Glu3Lys
NM_152263.3:c.7G>A
NP_689476.2:p.Glu3Lys
NR_103460.1:n.56G>A
XM_006711515.1:c.7G>A
XP_006711578.1:p.Glu3Lys
XM_006711517.1:c.7G>A
XP_006711580.1:p.Glu3Lys
XM_006711518.1:c.7G>A
XP_006711581.1:p.Glu3Lys
XM_006711519.1:c.7G>A
XP_006711582.1:p.Glu3Lys
XM_006711520.1:c.7G>A
XP_006711583.1:p.Glu3Lys
XM_006711521.1:c.7G>A
XP_006711584.1:p.Glu3Lys
XM_011509950.1:c.7G>A
XP_011508252.1:p.Glu3Lys
XM_011509951.1:c.7G>A
XP_011508253.1:p.Glu3Lys
NM_001364679.1:c.7G>A
NP_001351608.1:p.Glu3Lys
NM_001364680.1:c.7G>A
NP_001351609.1:p.Glu3Lys
NM_001364681.1:c.7G>A
NP_001351610.1:p.Glu3Lys
NM_001364682.1:c.7G>A
NP_001351611.1:p.Glu3Lys
NM_152263.4:c.7G>A
MANE Select
NP_689476.2:p.Glu3Lys
NM_001364679.2:c.7G>A
NP_001351608.1:p.Glu3Lys
NM_001364680.2:c.7G>A
NP_001351609.1:p.Glu3Lys
NM_001364681.2:c.7G>A
NP_001351610.1:p.Glu3Lys
NR_103460.2:n.89G>A