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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.11885967G= , CM000674.2:g.11885967G=
GRCh38
NC_000012.11:g.12038901G= , CM000674.1:g.12038901G=
GRCh37
NC_000012.10:g.11930168G=
NCBI36
NG_011443.1:g.241114G= , LRG_609:g.241114G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396373.9:c.1194G=
MANE Select
ENSP00000379658.3:p.Leu398=
ENST00000266427.3:c.31G=
ENST00000396373.8:c.1194G=
ENSP00000379658.3:p.Leu398=
NM_001987.4:c.1194G= , LRG_609t1:c.1194G=
NP_001978.1:p.Leu398=
XM_011520607.1:c.1191G=
XP_011518909.1:p.Leu397=
XM_011520608.1:c.1167G=
XP_011518910.1:p.Leu389=
XM_011520609.1:c.930G=
XP_011518911.1:p.Leu310=
XM_011520610.1:c.930G=
XP_011518912.1:p.Leu310=
XM_011520611.1:c.930G=
XP_011518913.1:p.Leu310=
XM_011520612.1:c.573G=
XP_011518914.1:p.Leu191=
XM_011520607.2:c.1191G=
XP_011518909.1:p.Leu397=
XM_011520608.2:c.1167G=
XP_011518910.1:p.Leu389=
XM_011520609.2:c.930G=
XP_011518911.1:p.Leu310=
XM_011520611.2:c.930G=
XP_011518913.1:p.Leu310=
XM_011520612.2:c.573G=
XP_011518914.1:p.Leu191=
XM_017018990.1:c.1059G=
XP_016874479.1:p.Leu353=
XM_017018991.1:c.930G=
XP_016874480.1:p.Leu310=
NM_001987.5:c.1194G=
MANE Select
NP_001978.1:p.Leu398=