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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.72225086G>C , CM000673.2:g.72225086G>C
GRCh38
NC_000011.9:g.71936130G>C , CM000673.1:g.71936130G>C
GRCh37
NC_000011.8:g.71613778G>C
NCBI36
NG_023253.1:g.5249G>C
NG_023253.2:g.5249G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000298229.7:c.102G>C
MANE Select
ENSP00000298229.2:p.Leu34=
ENST00000298229.6:c.102G>C
ENSP00000298229.2:p.Leu34=
ENST00000541544.1:n.18G>C
NM_001567.3:c.102G>C
NP_001558.3:p.Leu34=
XM_005273978.3:c.102G>C
XP_005274035.1:p.Leu34=
XM_005273979.3:c.102G>C
XP_005274036.1:p.Leu34=
XM_011544999.1:c.102G>C
XP_011543301.1:p.Leu34=
XM_011545000.1:c.102G>C
XP_011543302.1:p.Leu34=
XM_005273979.4:c.102G>C
XP_005274036.1:p.Leu34=
XM_011544999.2:c.102G>C
XP_011543301.1:p.Leu34=
XM_024448501.1:c.102G>C
XP_024304269.1:p.Leu34=
XM_024448502.1:c.102G>C
XP_024304270.1:p.Leu34=
XM_024448503.1:c.-20G>C
XP_024304271.1:n.-20G>C
XM_024448504.1:c.102G>C
XP_024304272.1:p.Leu34=
XM_024448505.1:c.102G>C
XP_024304273.1:p.Leu34=
NM_001567.4:c.102G>C
MANE Select
NP_001558.3:p.Leu34=