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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28034191T>C , CM000675.2:g.28034191T>C
GRCh38
NC_000013.10:g.28608328T>C , CM000675.1:g.28608328T>C
GRCh37
NC_000013.9:g.27506328T>C
NCBI36
NG_007066.1:g.71378A>G , LRG_457:g.71378A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.1728A>G
MANE Select
ENSP00000241453.7:p.Leu576=
ENST00000241453.11:c.1728A>G
ENSP00000241453.7:p.Leu576=
ENST00000380987.2:c.1728A>G
ENSP00000370374.2:p.Leu576=
NM_004119.2:c.1728A>G , LRG_457t1:c.1728A>G
NP_004110.2:p.Leu576=
NR_130706.1:n.1810A>G
XM_011535015.1:c.1671A>G
XP_011533317.1:p.Leu557=
XM_011535016.1:c.1203A>G
XP_011533318.1:p.Leu401=
XM_011535017.1:c.1203A>G
XP_011533319.1:p.Leu401=
XM_011535018.1:c.1203A>G
XP_011533320.1:p.Leu401=
XM_011535015.2:c.1671A>G
XP_011533317.1:p.Leu557=
XM_011535017.2:c.1203A>G
XP_011533319.1:p.Leu401=
XM_011535018.2:c.1203A>G
XP_011533320.1:p.Leu401=
XM_017020486.1:c.1512A>G
XP_016875975.1:p.Leu504=
XM_017020487.1:c.1203A>G
XP_016875976.1:p.Leu401=
XM_017020488.1:c.849A>G
XP_016875977.1:p.Leu283=
XM_017020489.1:c.831A>G
XP_016875978.1:p.Leu277=
NM_004119.3:c.1728A>G
MANE Select
NP_004110.2:p.Leu576=
NR_130706.2:n.1794A>G