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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.745372G>A , CM000679.2:g.745372G>A
GRCh38
NC_000017.10:g.648612G>A , CM000679.1:g.648612G>A
GRCh37
NC_000017.9:g.595362G>A
NCBI36
NG_046938.1:g.12501C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000319004.6:c.2671C>T
MANE Select
ENSP00000321706.5:p.Leu891=
ENST00000319004.5:c.2671C>T
ENSP00000321706.5:p.Leu891=
ENST00000576778.1:c.2638C>T
ENSP00000459565.1:p.Leu880=
NM_015721.2:c.2671C>T
NP_056536.2:p.Leu891=
XM_005256667.3:c.2683C>T
XP_005256724.1:p.Leu895=
XM_005256668.3:c.2683C>T
XP_005256725.1:p.Leu895=
XM_005256670.3:c.2638C>T
XP_005256727.1:p.Leu880=
XM_011523910.1:c.2683C>T
XP_011522212.1:p.Leu895=
XM_011523911.1:c.2683C>T
XP_011522213.1:p.Leu895=
XM_011523912.1:c.2638C>T
XP_011522214.1:p.Leu880=
XM_011523913.1:c.2638C>T
XP_011522215.1:p.Leu880=
XM_005256667.4:c.2683C>T
XP_005256724.1:p.Leu895=
XM_005256670.5:c.2638C>T
XP_005256727.1:p.Leu880=
XM_011523910.2:c.2683C>T
XP_011522212.1:p.Leu895=
XM_011523911.2:c.2683C>T
XP_011522213.1:p.Leu895=
XM_011523912.2:c.2638C>T
XP_011522214.1:p.Leu880=
XM_011523913.2:c.2638C>T
XP_011522215.1:p.Leu880=
XM_017024709.1:c.2683C>T
XP_016880198.1:p.Leu895=
NM_015721.3:c.2671C>T
MANE Select
NP_056536.2:p.Leu891=