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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.8325964C= , CM000663.2:g.8325964C=
GRCh38
NC_000001.10:g.8386024C= , CM000663.1:g.8386024C=
GRCh37
NC_000001.9:g.8308611C=
NCBI36
NG_034025.1:g.12880C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000471889.7:c.637C=
MANE Select
ENSP00000418096.3:p.Pro213=
ENST00000289877.8:c.637C=
ENSP00000289877.8:p.Pro213=
ENST00000471889.5:c.739C=
ENSP00000418096.2:p.Pro247=
NM_001080397.2:c.739C=
NP_001073866.2:p.Pro247=
XM_011541530.1:c.739C=
XP_011539832.1:p.Pro247=
XM_011541531.1:c.646C=
XP_011539833.1:p.Pro216=
XM_011541530.2:c.739C=
XP_011539832.1:p.Pro247=
XM_011541531.2:c.646C=
XP_011539833.1:p.Pro216=
XM_024447371.1:c.646C=
XP_024303139.1:p.Pro216=
XM_024447372.1:c.31C=
XP_024303140.1:p.Pro11=
NM_001080397.3:c.637C=
MANE Select
NP_001073866.3:p.Pro213=
NM_001379614.1:c.637C=
NP_001366543.1:p.Pro213=
NM_001379615.1:c.544C=
NP_001366544.1:p.Pro182=
NM_001379616.1:c.544C=
NP_001366545.1:p.Pro182=
NM_001379617.1:c.31C=
NP_001366546.1:p.Pro11=
NM_001379618.1:c.31C=
NP_001366547.1:p.Pro11=