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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.238397665G>A , CM000664.2:g.238397665G>A
GRCh38
NC_000002.11:g.239306306G>A , CM000664.1:g.239306306G>A
GRCh37
NC_000002.10:g.238971045G>A
NCBI36
NG_053055.1:g.82177G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373327.5:c.1896G>A
MANE Select
ENSP00000362424.4:p.Leu632=
ENST00000373327.4:c.1896G>A
ENSP00000362424.4:p.Leu632=
ENST00000391993.7:c.1698G>A
ENSP00000375851.3:p.Leu566=
ENST00000462122.1:n.907G>A
ENST00000483951.1:n.244G>A
NM_001139490.1:c.1698G>A
NP_001132962.1:p.Leu566=
NM_015650.3:c.1896G>A
NP_056465.2:p.Leu632=
XM_006712414.1:c.1695G>A
XP_006712477.1:p.Leu565=
XM_011510944.1:c.1998G>A
XP_011509246.1:p.Leu666=
XM_011510945.1:c.1959G>A
XP_011509247.1:p.Leu653=
XM_011510946.1:c.1926G>A
XP_011509248.1:p.Leu642=
XM_011510947.1:c.1866G>A
XP_011509249.1:p.Leu622=
XM_011510948.1:c.1800G>A
XP_011509250.1:p.Leu600=
XM_011510950.1:c.864G>A
XP_011509252.1:p.Leu288=
XM_006712414.2:c.1695G>A
XP_006712477.1:p.Leu565=
XM_011510944.2:c.1998G>A
XP_011509246.1:p.Leu666=
XM_011510945.2:c.1959G>A
XP_011509247.1:p.Leu653=
XM_011510946.2:c.1926G>A
XP_011509248.1:p.Leu642=
XM_011510947.2:c.1866G>A
XP_011509249.1:p.Leu622=
XM_011510948.2:c.1800G>A
XP_011509250.1:p.Leu600=
XM_011510950.2:c.864G>A
XP_011509252.1:p.Leu288=
XM_017003789.1:c.1995G>A
XP_016859278.1:p.Leu665=
XR_001738696.1:n.1724G>A
XR_001738697.1:n.1721G>A
NM_015650.4:c.1896G>A
MANE Select
NP_056465.2:p.Leu632=