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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.80202580C= , CM000666.2:g.80202580C=
GRCh38
NC_000004.11:g.81123734C= , CM000666.1:g.81123734C=
GRCh37
NC_000004.10:g.81342758C=
NCBI36
NG_046725.1:g.22311C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000415738.3:c.1118C=
MANE Select
ENSP00000406998.2:p.Pro373=
ENST00000339711.8:c.1118C=
ENSP00000339764.4:p.Pro373=
ENST00000415738.2:c.1118C=
ENSP00000406998.2:p.Pro373=
ENST00000504452.5:c.1118C=
ENSP00000423985.1:p.Pro373=
ENST00000515013.5:c.1118C=
ENSP00000425149.1:p.Pro373=
NM_001099403.1:c.1118C=
NP_001092873.1:p.Pro373=
NM_020226.3:c.1118C=
NP_064611.3:p.Pro373=
XM_005263144.2:c.1121C=
XP_005263201.1:p.Pro374=
XM_005263145.2:c.1121C=
XP_005263202.1:p.Pro374=
XM_005263146.3:c.1118C=
XP_005263203.1:p.Pro373=
XM_011532133.1:c.1961C=
XP_011530435.1:p.Pro654=
XM_011532134.1:c.1958C=
XP_011530436.1:p.Pro653=
XM_011532135.1:c.1820C=
XP_011530437.1:p.Pro607=
XM_011532136.1:c.1673C=
XP_011530438.1:p.Pro558=
XM_011532137.1:c.1673C=
XP_011530439.1:p.Pro558=
XM_011532138.1:c.1673C=
XP_011530440.1:p.Pro558=
XM_011532139.1:c.1673C=
XP_011530441.1:p.Pro558=
XM_011532140.1:c.1673C=
XP_011530442.1:p.Pro558=
XM_011532141.1:c.1535C=
XP_011530443.1:p.Pro512=
XM_011532142.1:c.1514C=
XP_011530444.1:p.Pro505=
XM_005263146.4:c.1118C=
XP_005263203.1:p.Pro373=
XM_011532133.2:c.1961C=
XP_011530435.1:p.Pro654=
XM_011532135.2:c.1820C=
XP_011530437.1:p.Pro607=
XM_011532140.2:c.1673C=
XP_011530442.1:p.Pro558=
XM_011532141.3:c.1535C=
XP_011530443.1:p.Pro512=
XM_017008468.1:c.1670C=
XP_016863957.1:p.Pro557=
XM_017008469.1:c.1757C=
XP_016863958.1:p.Pro586=
XM_017008470.1:c.1673C=
XP_016863959.1:p.Pro558=
NM_001099403.2:c.1118C=
MANE Select
NP_001092873.1:p.Pro373=
NM_020226.4:c.1118C=
NP_064611.3:p.Pro373=