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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.76469785C>T , CM000679.2:g.76469785C>T
GRCh38
NC_000017.10:g.74465867C>T , CM000679.1:g.74465867C>T
GRCh37
NC_000017.9:g.71977462C>T
NCBI36
NG_015976.1:g.21435C>T
NG_032852.1:g.36643G>A , LRG_532:g.36643G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000392492.8:c.439C>T
MANE Select
ENSP00000376282.2:p.Leu147=
ENST00000250615.7:c.574C>T
ENSP00000250615.2:p.Leu192=
ENST00000392492.7:c.439C>T
ENSP00000376282.2:p.Leu147=
ENST00000587798.1:c.*216C>T
ENSP00000468239.1:n.*216C>T
NM_001088.2:c.439C>T
NP_001079.1:p.Leu147=
NM_001166579.1:c.574C>T
NP_001160051.1:p.Leu192=
NR_110548.1:n.750C>T
XM_011524415.1:c.439C>T
XP_011522717.1:p.Leu147=
XM_011524416.1:c.646C>T
XP_011522718.1:p.Leu216=
XM_011524417.1:c.646C>T
XP_011522719.1:p.Leu216=
XM_011524418.1:c.646C>T
XP_011522720.1:p.Leu216=
XM_011524419.1:c.646C>T
XP_011522721.1:p.Leu216=
XM_011524420.1:c.646C>T
XP_011522722.1:p.Leu216=
XM_011524421.1:c.646C>T
XP_011522723.1:p.Leu216=
XM_011524422.1:c.529C>T
XP_011522724.1:p.Leu177=
XM_011524423.1:c.439C>T
XP_011522725.1:p.Leu147=
XM_017024259.1:c.553C>T
XP_016879748.1:p.Leu185=
NM_001088.3:c.439C>T
MANE Select
NP_001079.1:p.Leu147=
NR_110548.2:n.695C>T
NM_001166579.2:c.574C>T
NP_001160051.1:p.Leu192=