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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.18075804C>G , CM000681.2:g.18075804C>G
GRCh38
NC_000019.9:g.18186614C>G , CM000681.1:g.18186614C>G
GRCh37
NC_000019.8:g.18047614C>G
NCBI36
NG_007366.2:g.28146G>C , LRG_72:g.28146G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000593993.7:c.645G>C
MANE Select
ENSP00000472165.2:p.Leu215=
ENST00000322153.11:c.645G>C
ENSP00000314425.5:p.Leu215=
ENST00000593993.6:c.645G>C
ENSP00000472165.2:p.Leu215=
ENST00000600835.6:c.645G>C
ENSP00000470788.1:p.Leu215=
NM_001290023.1:c.645G>C
NP_001276952.1:p.Leu215=
NM_001290024.1:c.765G>C
NP_001276953.1:p.Leu255=
NM_005535.2:c.645G>C
NP_005526.1:p.Leu215=
NM_153701.2:c.645G>C
NP_714912.1:p.Leu215=
XM_006722741.2:c.765G>C
XP_006722804.2:p.Leu255=
XM_011527966.1:c.777G>C
XP_011526268.1:p.Leu259=
XM_011527967.1:c.765G>C
XP_011526269.1:p.Leu255=
XM_011527968.1:c.777G>C
XP_011526270.1:p.Leu259=
XM_011527969.1:c.765G>C
XP_011526271.1:p.Leu255=
XM_011527970.1:c.777G>C
XP_011526272.1:p.Leu259=
XM_011527971.1:c.777G>C
XP_011526273.1:p.Leu259=
XM_011527972.1:c.777G>C
XP_011526274.1:p.Leu259=
XM_011527973.1:c.657G>C
XP_011526275.1:p.Leu219=
XM_011527974.1:c.645G>C
XP_011526276.1:p.Leu215=
XM_011527975.1:c.765G>C
XP_011526277.1:p.Leu255=
XM_011527976.1:c.777G>C
XP_011526278.1:p.Leu259=
XM_011527977.1:c.765G>C
XP_011526279.1:p.Leu255=
XM_006722741.3:c.765G>C
XP_006722804.2:p.Leu255=
XM_011527966.2:c.777G>C
XP_011526268.1:p.Leu259=
XM_011527967.2:c.765G>C
XP_011526269.1:p.Leu255=
XM_011527968.3:c.777G>C
XP_011526270.1:p.Leu259=
XM_011527969.2:c.765G>C
XP_011526271.1:p.Leu255=
XM_011527970.2:c.777G>C
XP_011526272.1:p.Leu259=
XM_011527971.3:c.777G>C
XP_011526273.1:p.Leu259=
XM_011527972.3:c.777G>C
XP_011526274.1:p.Leu259=
XM_011527973.2:c.657G>C
XP_011526275.1:p.Leu219=
XM_011527974.2:c.645G>C
XP_011526276.1:p.Leu215=
XM_011527975.2:c.765G>C
XP_011526277.1:p.Leu255=
XM_011527976.2:c.777G>C
XP_011526278.1:p.Leu259=
XM_011527977.2:c.765G>C
XP_011526279.1:p.Leu255=
XM_017026762.1:c.42G>C
XP_016882251.1:p.Leu14=
NM_001290023.2:c.645G>C
NP_001276952.1:p.Leu215=
NM_005535.3:c.645G>C
MANE Select
NP_005526.1:p.Leu215=
NM_153701.3:c.645G>C
NP_714912.1:p.Leu215=