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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.44711093G= , CM000677.2:g.44711093G=
GRCh38
NC_000015.9:g.45003291G= , CM000677.1:g.45003291G=
GRCh37
NC_000015.8:g.42790583G=
NCBI36
NG_012920.1:g.4607G=
NG_012920.2:g.4617G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-327C=
MANE Select
ENSP00000508024.1:n.-327C=
ENST00000558573.1:n.224C=
XM_011521338.1:c.-327C=
XP_011519640.1:n.-327C=
XM_011521339.1:c.-208C=
XP_011519641.1:n.-208C=
XM_011521340.1:c.-149C=
XP_011519642.1:n.-149C=
XM_011521343.1:c.-411C=
XP_011519645.1:n.-411C=
XM_011521345.1:c.-382C=
XP_011519647.1:n.-382C=
XM_011521338.3:c.-327C=
XP_011519640.1:n.-327C=
XM_011521339.3:c.-208C=
XP_011519641.1:n.-208C=
XM_011521340.3:c.-149C=
XP_011519642.1:n.-149C=
XM_011521343.3:c.-411C=
XP_011519645.1:n.-411C=
XM_011521345.3:c.-382C=
XP_011519647.1:n.-382C=
NM_001387260.1:c.-76+239C=
NP_001374189.1:n.-76+239C=
NM_001387261.1:c.-149C=
NP_001374190.1:n.-149C=
NM_001387262.1:c.-417C=
NP_001374191.1:n.-417C=
NM_001387263.1:c.-327C=
MANE Select
NP_001374192.1:n.-327C=