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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.23814262A>C , CM000666.2:g.23814262A>C
GRCh38
NC_000004.11:g.23815885A>C , CM000666.1:g.23815885A>C
GRCh37
NC_000004.10:g.23424983A>C
NCBI36
NG_028250.1:g.80816T>G
NG_028250.2:g.663714T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264867.7:c.1221T>G
MANE Select
ENSP00000264867.2:p.Ser407=
ENST00000264867.6:c.1221T>G
ENSP00000264867.2:p.Ser407=
ENST00000506055.5:c.*436T>G
ENSP00000423075.1:n.*436T>G
ENST00000509702.5:n.1261T>G
ENST00000613098.4:c.840T>G
ENSP00000481498.1:p.Ser280=
NM_013261.3:c.1221T>G
NP_037393.1:p.Ser407=
XM_005248130.2:c.1236T>G
XP_005248187.1:p.Ser412=
XM_005248131.3:c.1233T>G
XP_005248188.1:p.Ser411=
XM_005248132.1:c.1212T>G
XP_005248189.1:p.Ser404=
XM_005248134.3:c.1236T>G
XP_005248191.1:p.Ser412=
XM_011513764.1:c.1221T>G
XP_011512066.1:p.Ser407=
XM_011513765.1:c.1185T>G
XP_011512067.1:p.Ser395=
XM_011513766.1:c.1116T>G
XP_011512068.1:p.Ser372=
XM_011513767.1:c.1116T>G
XP_011512069.1:p.Ser372=
XM_011513768.1:c.1116T>G
XP_011512070.1:p.Ser372=
XM_011513769.1:c.1236T>G
XP_011512071.1:p.Ser412=
XM_011513770.1:c.840T>G
XP_011512072.1:p.Ser280=
XM_011513771.1:c.840T>G
XP_011512073.1:p.Ser280=
NM_001330751.1:c.1236T>G
NP_001317680.1:p.Ser412=
NM_001330752.1:c.1185T>G
NP_001317681.1:p.Ser395=
NM_001330753.1:c.840T>G
NP_001317682.1:p.Ser280=
NM_001354825.1:c.1236T>G
NP_001341754.1:p.Ser412=
NM_001354826.1:c.840T>G
NP_001341755.1:p.Ser280=
NM_001354827.1:c.1236T>G
NP_001341756.1:p.Ser412=
NM_013261.4:c.1221T>G
NP_037393.1:p.Ser407=
NR_148981.1:n.1748T>G
NR_148982.1:n.1821T>G
NR_148983.1:n.1974T>G
NR_148984.1:n.1372T>G
NR_148985.1:n.1886T>G
NR_148986.1:n.1891T>G
NR_148987.1:n.1973T>G
XM_005248131.5:c.1233T>G
XP_005248188.1:p.Ser411=
XM_005248134.4:c.1236T>G
XP_005248191.1:p.Ser412=
XM_011513769.2:c.1236T>G
XP_011512071.1:p.Ser412=
XM_024453878.1:c.1236T>G
XP_024309646.1:p.Ser412=
NM_013261.5:c.1221T>G
MANE Select
NP_037393.1:p.Ser407=
NM_001330751.2:c.1236T>G
NP_001317680.1:p.Ser412=
NM_001330752.2:c.1185T>G
NP_001317681.1:p.Ser395=
NM_001354825.2:c.1236T>G
NP_001341754.1:p.Ser412=
NM_001354826.2:c.840T>G
NP_001341755.1:p.Ser280=
NM_001354827.2:c.1236T>G
NP_001341756.1:p.Ser412=
NR_148981.2:n.1824T>G
NR_148982.2:n.1897T>G
NR_148983.2:n.2050T>G
NR_148984.2:n.1342T>G
NR_148985.2:n.1962T>G
NR_148986.2:n.1967T>G
NR_148987.2:n.2049T>G
NM_001330753.2:c.840T>G
NP_001317682.1:p.Ser280=