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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.44541259T>A , CM000669.2:g.44541259T>A
GRCh38
NC_000007.13:g.44580858T>A , CM000669.1:g.44580858T>A
GRCh37
NC_000007.12:g.44547383T>A
NCBI36
NG_013088.1:g.5057A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000381160.8:c.1A>T
MANE Select
ENSP00000370552.3:p.Met1Leu
ENST00000289547.8:c.1A>T
ENSP00000289547.4:p.Met1Leu
ENST00000381160.7:c.1A>T
ENSP00000370552.3:p.Met1Leu
ENST00000423141.1:c.1A>T
ENSP00000404670.1:p.Met1Leu
ENST00000546276.5:c.1A>T
ENSP00000438033.1:p.Met1Leu
NM_001101648.1:c.1A>T
NP_001095118.1:p.Met1Leu
NM_001300967.1:c.1A>T
NP_001287896.1:p.Met1Leu
NM_013389.2:c.1A>T
NP_037521.2:p.Met1Leu
XM_011515326.1:c.1A>T
XP_011513628.1:p.Met1Leu
XM_011515327.1:c.1A>T
XP_011513629.1:p.Met1Leu
XM_011515326.3:c.1A>T
XP_011513628.1:p.Met1Leu
XR_002956423.1:n.393A>T
NM_001101648.2:c.1A>T
MANE Select
NP_001095118.1:p.Met1Leu
NM_001300967.2:c.1A>T
NP_001287896.1:p.Met1Leu
NM_013389.3:c.1A>T
NP_037521.2:p.Met1Leu