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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186284171G>C , CM000666.2:g.186284171G>C
GRCh38
NC_000004.11:g.187205325G>C , CM000666.1:g.187205325G>C
GRCh37
NC_000004.10:g.187442319G>C
NCBI36
NG_008051.1:g.23208G>C , LRG_583:g.23208G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1215G>C
MANE Select
ENSP00000384957.2:p.Leu405=
ENST00000264692.8:c.1053G>C
ENSP00000264692.5:p.Leu351=
ENST00000403665.6:c.1215G>C
ENSP00000384957.2:p.Leu405=
NM_000128.3:c.1215G>C , LRG_583t1:c.1215G>C
NP_000119.1:p.Leu405=
XM_005262821.2:c.1218G>C
XP_005262878.1:p.Leu406=
XM_005262822.2:c.1218G>C
XP_005262879.1:p.Leu406=
XM_005262823.2:c.948G>C
XP_005262880.1:p.Leu316=
XM_005262824.1:c.1218G>C
XP_005262881.1:p.Leu406=
XM_006714137.1:c.1170G>C
XP_006714200.1:p.Leu390=
XR_938706.1:n.1623G>C
XR_938707.1:n.1623G>C
XM_005262821.4:c.1218G>C
XP_005262878.1:p.Leu406=
XM_005262822.4:c.1218G>C
XP_005262879.1:p.Leu406=
XM_005262823.4:c.948G>C
XP_005262880.1:p.Leu316=
XM_006714137.3:c.1170G>C
XP_006714200.1:p.Leu390=
XM_017007884.2:c.*2187G>C
XP_016863373.1:n.*2187G>C
XR_001741172.2:n.1689G>C
NM_000128.4:c.1215G>C
MANE Select
NP_000119.1:p.Leu405=