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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.18059942G>A , CM000681.2:g.18059942G>A
GRCh38
NC_000019.9:g.18170752G>A , CM000681.1:g.18170752G>A
GRCh37
NC_000019.8:g.18031752G>A
NCBI36
NG_007366.2:g.44008C>T , LRG_72:g.44008C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000593993.7:c.1935C>T
MANE Select
ENSP00000472165.2:p.Ala645=
ENST00000593993.6:c.1935C>T
ENSP00000472165.2:p.Ala645=
ENST00000600835.6:c.1935C>T
ENSP00000470788.1:p.Ala645=
NM_001290023.1:c.1935C>T
NP_001276952.1:p.Ala645=
NM_001290024.1:c.2055C>T
NP_001276953.1:p.Ala685=
NM_005535.2:c.1935C>T
NP_005526.1:p.Ala645=
XM_006722741.2:c.2055C>T
XP_006722804.2:p.Ala685=
XM_011527966.1:c.2088C>T
XP_011526268.1:p.Ala696=
XM_011527967.1:c.2076C>T
XP_011526269.1:p.Ala692=
XM_011527968.1:c.2067C>T
XP_011526270.1:p.Ala689=
XM_011527969.1:c.2055C>T
XP_011526271.1:p.Ala685=
XM_011527970.1:c.2088C>T
XP_011526272.1:p.Ala696=
XM_011527971.1:c.2088C>T
XP_011526273.1:p.Ala696=
XM_011527972.1:c.2088C>T
XP_011526274.1:p.Ala696=
XM_011527973.1:c.1968C>T
XP_011526275.1:p.Ala656=
XM_011527974.1:c.1956C>T
XP_011526276.1:p.Ala652=
XM_011527975.1:c.2055C>T
XP_011526277.1:p.Ala685=
XM_006722741.3:c.2055C>T
XP_006722804.2:p.Ala685=
XM_011527966.2:c.2088C>T
XP_011526268.1:p.Ala696=
XM_011527967.2:c.2076C>T
XP_011526269.1:p.Ala692=
XM_011527968.3:c.2067C>T
XP_011526270.1:p.Ala689=
XM_011527969.2:c.2055C>T
XP_011526271.1:p.Ala685=
XM_011527970.2:c.2088C>T
XP_011526272.1:p.Ala696=
XM_011527971.3:c.2088C>T
XP_011526273.1:p.Ala696=
XM_011527972.3:c.2088C>T
XP_011526274.1:p.Ala696=
XM_011527973.2:c.1968C>T
XP_011526275.1:p.Ala656=
XM_011527974.2:c.1956C>T
XP_011526276.1:p.Ala652=
XM_011527975.2:c.2055C>T
XP_011526277.1:p.Ala685=
XM_017026762.1:c.1353C>T
XP_016882251.1:p.Ala451=
NM_001290023.2:c.1935C>T
NP_001276952.1:p.Ala645=
NM_005535.3:c.1935C>T
MANE Select
NP_005526.1:p.Ala645=