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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.23814271G= , CM000666.2:g.23814271G=
GRCh38
NC_000004.11:g.23815894G= , CM000666.1:g.23815894G=
GRCh37
NC_000004.10:g.23424992G=
NCBI36
NG_028250.1:g.80807C=
NG_028250.2:g.663705C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264867.7:c.1212C=
MANE Select
ENSP00000264867.2:p.Leu404=
ENST00000264867.6:c.1212C=
ENSP00000264867.2:p.Leu404=
ENST00000506055.5:c.*427C=
ENSP00000423075.1:n.*427C=
ENST00000509702.5:n.1252C=
ENST00000613098.4:c.831C=
ENSP00000481498.1:p.Leu277=
NM_013261.3:c.1212C=
NP_037393.1:p.Leu404=
XM_005248130.2:c.1227C=
XP_005248187.1:p.Leu409=
XM_005248131.3:c.1224C=
XP_005248188.1:p.Leu408=
XM_005248132.1:c.1203C=
XP_005248189.1:p.Leu401=
XM_005248134.3:c.1227C=
XP_005248191.1:p.Leu409=
XM_011513764.1:c.1212C=
XP_011512066.1:p.Leu404=
XM_011513765.1:c.1176C=
XP_011512067.1:p.Leu392=
XM_011513766.1:c.1107C=
XP_011512068.1:p.Leu369=
XM_011513767.1:c.1107C=
XP_011512069.1:p.Leu369=
XM_011513768.1:c.1107C=
XP_011512070.1:p.Leu369=
XM_011513769.1:c.1227C=
XP_011512071.1:p.Leu409=
XM_011513770.1:c.831C=
XP_011512072.1:p.Leu277=
XM_011513771.1:c.831C=
XP_011512073.1:p.Leu277=
NM_001330751.1:c.1227C=
NP_001317680.1:p.Leu409=
NM_001330752.1:c.1176C=
NP_001317681.1:p.Leu392=
NM_001330753.1:c.831C=
NP_001317682.1:p.Leu277=
NM_001354825.1:c.1227C=
NP_001341754.1:p.Leu409=
NM_001354826.1:c.831C=
NP_001341755.1:p.Leu277=
NM_001354827.1:c.1227C=
NP_001341756.1:p.Leu409=
NM_013261.4:c.1212C=
NP_037393.1:p.Leu404=
NR_148981.1:n.1739C=
NR_148982.1:n.1812C=
NR_148983.1:n.1965C=
NR_148984.1:n.1363C=
NR_148985.1:n.1877C=
NR_148986.1:n.1882C=
NR_148987.1:n.1964C=
XM_005248131.5:c.1224C=
XP_005248188.1:p.Leu408=
XM_005248134.4:c.1227C=
XP_005248191.1:p.Leu409=
XM_011513769.2:c.1227C=
XP_011512071.1:p.Leu409=
XM_024453878.1:c.1227C=
XP_024309646.1:p.Leu409=
NM_013261.5:c.1212C=
MANE Select
NP_037393.1:p.Leu404=
NM_001330751.2:c.1227C=
NP_001317680.1:p.Leu409=
NM_001330752.2:c.1176C=
NP_001317681.1:p.Leu392=
NM_001354825.2:c.1227C=
NP_001341754.1:p.Leu409=
NM_001354826.2:c.831C=
NP_001341755.1:p.Leu277=
NM_001354827.2:c.1227C=
NP_001341756.1:p.Leu409=
NR_148981.2:n.1815C=
NR_148982.2:n.1888C=
NR_148983.2:n.2041C=
NR_148984.2:n.1333C=
NR_148985.2:n.1953C=
NR_148986.2:n.1958C=
NR_148987.2:n.2040C=
NM_001330753.2:c.831C=
NP_001317682.1:p.Leu277=