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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.80202563C= , CM000666.2:g.80202563C=
GRCh38
NC_000004.11:g.81123717C= , CM000666.1:g.81123717C=
GRCh37
NC_000004.10:g.81342741C=
NCBI36
NG_046725.1:g.22294C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000415738.3:c.1101C=
MANE Select
ENSP00000406998.2:p.Asn367=
ENST00000339711.8:c.1101C=
ENSP00000339764.4:p.Asn367=
ENST00000415738.2:c.1101C=
ENSP00000406998.2:p.Asn367=
ENST00000504452.5:c.1101C=
ENSP00000423985.1:p.Asn367=
ENST00000515013.5:c.1101C=
ENSP00000425149.1:p.Asn367=
NM_001099403.1:c.1101C=
NP_001092873.1:p.Asn367=
NM_020226.3:c.1101C=
NP_064611.3:p.Asn367=
XM_005263144.2:c.1104C=
XP_005263201.1:p.Asn368=
XM_005263145.2:c.1104C=
XP_005263202.1:p.Asn368=
XM_005263146.3:c.1101C=
XP_005263203.1:p.Asn367=
XM_011532133.1:c.1944C=
XP_011530435.1:p.Asn648=
XM_011532134.1:c.1941C=
XP_011530436.1:p.Asn647=
XM_011532135.1:c.1803C=
XP_011530437.1:p.Asn601=
XM_011532136.1:c.1656C=
XP_011530438.1:p.Asn552=
XM_011532137.1:c.1656C=
XP_011530439.1:p.Asn552=
XM_011532138.1:c.1656C=
XP_011530440.1:p.Asn552=
XM_011532139.1:c.1656C=
XP_011530441.1:p.Asn552=
XM_011532140.1:c.1656C=
XP_011530442.1:p.Asn552=
XM_011532141.1:c.1518C=
XP_011530443.1:p.Asn506=
XM_011532142.1:c.1497C=
XP_011530444.1:p.Asn499=
XM_005263146.4:c.1101C=
XP_005263203.1:p.Asn367=
XM_011532133.2:c.1944C=
XP_011530435.1:p.Asn648=
XM_011532135.2:c.1803C=
XP_011530437.1:p.Asn601=
XM_011532140.2:c.1656C=
XP_011530442.1:p.Asn552=
XM_011532141.3:c.1518C=
XP_011530443.1:p.Asn506=
XM_017008468.1:c.1653C=
XP_016863957.1:p.Asn551=
XM_017008469.1:c.1740C=
XP_016863958.1:p.Asn580=
XM_017008470.1:c.1656C=
XP_016863959.1:p.Asn552=
NM_001099403.2:c.1101C=
MANE Select
NP_001092873.1:p.Asn367=
NM_020226.4:c.1101C=
NP_064611.3:p.Asn367=