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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.11274016T= , CM000663.2:g.11274016T=
GRCh38
NC_000001.10:g.11334073T= , CM000663.1:g.11334073T=
GRCh37
NC_000001.9:g.11256660T=
NCBI36
NG_009443.1:g.5819T=
NG_009443.2:g.5819T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376810.6:c.485T=
MANE Select
ENSP00000366006.5:p.Leu162=
ENST00000376804.2:c.485T=
ENSP00000366000.1:p.Leu162=
ENST00000376810.5:c.485T=
ENSP00000366006.5:p.Leu162=
ENST00000483738.1:c.83T=
ENSP00000473453.1:p.Leu28=
ENST00000486588.6:c.128T=
ENSP00000473612.1:p.Leu43=
NM_013319.2:c.485T=
NP_037451.1:p.Leu162=
XM_006710590.2:c.485T=
XP_006710653.1:p.Leu162=
XM_011541304.1:c.485T=
XP_011539606.1:p.Leu162=
XR_946616.1:n.819T=
NM_001330349.1:c.485T=
NP_001317278.1:p.Leu162=
NM_001330350.1:c.485T=
NP_001317279.1:p.Leu162=
XR_946616.3:n.819T=
NM_001330349.2:c.485T=
NP_001317278.1:p.Leu162=
NM_001330350.2:c.485T=
NP_001317279.1:p.Leu162=
NM_013319.3:c.485T=
MANE Select
NP_037451.1:p.Leu162=