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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.80202590C= , CM000666.2:g.80202590C=
GRCh38
NC_000004.11:g.81123744C= , CM000666.1:g.81123744C=
GRCh37
NC_000004.10:g.81342768C=
NCBI36
NG_046725.1:g.22321C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000415738.3:c.1128C=
MANE Select
ENSP00000406998.2:p.Pro376=
ENST00000339711.8:c.1128C=
ENSP00000339764.4:p.Pro376=
ENST00000415738.2:c.1128C=
ENSP00000406998.2:p.Pro376=
ENST00000504452.5:c.1128C=
ENSP00000423985.1:p.Pro376=
ENST00000515013.5:c.1128C=
ENSP00000425149.1:p.Pro376=
NM_001099403.1:c.1128C=
NP_001092873.1:p.Pro376=
NM_020226.3:c.1128C=
NP_064611.3:p.Pro376=
XM_005263144.2:c.1131C=
XP_005263201.1:p.Pro377=
XM_005263145.2:c.1131C=
XP_005263202.1:p.Pro377=
XM_005263146.3:c.1128C=
XP_005263203.1:p.Pro376=
XM_011532133.1:c.1971C=
XP_011530435.1:p.Pro657=
XM_011532134.1:c.1968C=
XP_011530436.1:p.Pro656=
XM_011532135.1:c.1830C=
XP_011530437.1:p.Pro610=
XM_011532136.1:c.1683C=
XP_011530438.1:p.Pro561=
XM_011532137.1:c.1683C=
XP_011530439.1:p.Pro561=
XM_011532138.1:c.1683C=
XP_011530440.1:p.Pro561=
XM_011532139.1:c.1683C=
XP_011530441.1:p.Pro561=
XM_011532140.1:c.1683C=
XP_011530442.1:p.Pro561=
XM_011532141.1:c.1545C=
XP_011530443.1:p.Pro515=
XM_011532142.1:c.1524C=
XP_011530444.1:p.Pro508=
XM_005263146.4:c.1128C=
XP_005263203.1:p.Pro376=
XM_011532133.2:c.1971C=
XP_011530435.1:p.Pro657=
XM_011532135.2:c.1830C=
XP_011530437.1:p.Pro610=
XM_011532140.2:c.1683C=
XP_011530442.1:p.Pro561=
XM_011532141.3:c.1545C=
XP_011530443.1:p.Pro515=
XM_017008468.1:c.1680C=
XP_016863957.1:p.Pro560=
XM_017008469.1:c.1767C=
XP_016863958.1:p.Pro589=
XM_017008470.1:c.1683C=
XP_016863959.1:p.Pro561=
NM_001099403.2:c.1128C=
MANE Select
NP_001092873.1:p.Pro376=
NM_020226.4:c.1128C=
NP_064611.3:p.Pro376=