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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.122254190A>T , CM000665.2:g.122254190A>T
GRCh38
NC_000003.11:g.121973037A>T , CM000665.1:g.121973037A>T
GRCh37
NC_000003.10:g.123455727A>T
NCBI36
NG_009058.1:g.75508A>T
NG_009058.2:g.75523A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000490131.7:c.1A>T
ENSP00000418685.2:p.Met1Leu
ENST00000498619.4:c.1A>T
ENSP00000420194.1:p.Met1Leu
ENST00000638421.1:c.1A>T
ENSP00000492190.1:p.Met1Leu
ENST00000639785.2:c.1A>T
MANE Select
ENSP00000491584.2:p.Met1Leu
ENST00000490131.5:c.1A>T
ENSP00000418685.1:p.Met1Leu
ENST00000498619.2:c.1A>T
ENSP00000420194.1:p.Met1Leu
NM_000388.3:c.1A>T
NP_000379.2:p.Met1Leu
NM_001178065.1:c.1A>T
NP_001171536.1:p.Met1Leu
XM_005247836.2:c.1A>T
XP_005247893.1:p.Met1Leu
XM_006713789.2:c.1A>T
XP_006713852.1:p.Met1Leu
XM_011513237.1:c.1A>T
XP_011511539.1:p.Met1Leu
XM_011513238.1:c.1A>T
XP_011511540.1:p.Met1Leu
XM_006713789.3:c.1A>T
XP_006713852.1:p.Met1Leu
XM_017007324.1:c.1A>T
XP_016862813.1:p.Met1Leu
XM_017007325.1:c.1A>T
XP_016862814.1:p.Met1Leu
NM_000388.4:c.1A>T
MANE Select
NP_000379.3:p.Met1Leu
NM_001178065.2:c.1A>T
NP_001171536.2:p.Met1Leu