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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.18060035C= , CM000681.2:g.18060035C=
GRCh38
NC_000019.9:g.18170845C= , CM000681.1:g.18170845C=
GRCh37
NC_000019.8:g.18031845C=
NCBI36
NG_007366.2:g.43915G= , LRG_72:g.43915G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000593993.7:c.1842G=
MANE Select
ENSP00000472165.2:p.Gln614=
ENST00000593993.6:c.1842G=
ENSP00000472165.2:p.Gln614=
ENST00000600835.6:c.1842G=
ENSP00000470788.1:p.Gln614=
NM_001290023.1:c.1842G=
NP_001276952.1:p.Gln614=
NM_001290024.1:c.1962G=
NP_001276953.1:p.Gln654=
NM_005535.2:c.1842G=
NP_005526.1:p.Gln614=
XM_006722741.2:c.1962G=
XP_006722804.2:p.Gln654=
XM_011527966.1:c.1995G=
XP_011526268.1:p.Gln665=
XM_011527967.1:c.1983G=
XP_011526269.1:p.Gln661=
XM_011527968.1:c.1974G=
XP_011526270.1:p.Gln658=
XM_011527969.1:c.1962G=
XP_011526271.1:p.Gln654=
XM_011527970.1:c.1995G=
XP_011526272.1:p.Gln665=
XM_011527971.1:c.1995G=
XP_011526273.1:p.Gln665=
XM_011527972.1:c.1995G=
XP_011526274.1:p.Gln665=
XM_011527973.1:c.1875G=
XP_011526275.1:p.Gln625=
XM_011527974.1:c.1863G=
XP_011526276.1:p.Gln621=
XM_011527975.1:c.1962G=
XP_011526277.1:p.Gln654=
XM_006722741.3:c.1962G=
XP_006722804.2:p.Gln654=
XM_011527966.2:c.1995G=
XP_011526268.1:p.Gln665=
XM_011527967.2:c.1983G=
XP_011526269.1:p.Gln661=
XM_011527968.3:c.1974G=
XP_011526270.1:p.Gln658=
XM_011527969.2:c.1962G=
XP_011526271.1:p.Gln654=
XM_011527970.2:c.1995G=
XP_011526272.1:p.Gln665=
XM_011527971.3:c.1995G=
XP_011526273.1:p.Gln665=
XM_011527972.3:c.1995G=
XP_011526274.1:p.Gln665=
XM_011527973.2:c.1875G=
XP_011526275.1:p.Gln625=
XM_011527974.2:c.1863G=
XP_011526276.1:p.Gln621=
XM_011527975.2:c.1962G=
XP_011526277.1:p.Gln654=
XM_017026762.1:c.1260G=
XP_016882251.1:p.Gln420=
NM_001290023.2:c.1842G=
NP_001276952.1:p.Gln614=
NM_005535.3:c.1842G=
MANE Select
NP_005526.1:p.Gln614=