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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.23814277C>T , CM000666.2:g.23814277C>T
GRCh38
NC_000004.11:g.23815900C>T , CM000666.1:g.23815900C>T
GRCh37
NC_000004.10:g.23424998C>T
NCBI36
NG_028250.1:g.80801G>A
NG_028250.2:g.663699G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264867.7:c.1206G>A
MANE Select
ENSP00000264867.2:p.Gln402=
ENST00000264867.6:c.1206G>A
ENSP00000264867.2:p.Gln402=
ENST00000506055.5:c.*421G>A
ENSP00000423075.1:n.*421G>A
ENST00000509702.5:n.1246G>A
ENST00000613098.4:c.825G>A
ENSP00000481498.1:p.Gln275=
NM_013261.3:c.1206G>A
NP_037393.1:p.Gln402=
XM_005248130.2:c.1221G>A
XP_005248187.1:p.Gln407=
XM_005248131.3:c.1218G>A
XP_005248188.1:p.Gln406=
XM_005248132.1:c.1197G>A
XP_005248189.1:p.Gln399=
XM_005248134.3:c.1221G>A
XP_005248191.1:p.Gln407=
XM_011513764.1:c.1206G>A
XP_011512066.1:p.Gln402=
XM_011513765.1:c.1170G>A
XP_011512067.1:p.Gln390=
XM_011513766.1:c.1101G>A
XP_011512068.1:p.Gln367=
XM_011513767.1:c.1101G>A
XP_011512069.1:p.Gln367=
XM_011513768.1:c.1101G>A
XP_011512070.1:p.Gln367=
XM_011513769.1:c.1221G>A
XP_011512071.1:p.Gln407=
XM_011513770.1:c.825G>A
XP_011512072.1:p.Gln275=
XM_011513771.1:c.825G>A
XP_011512073.1:p.Gln275=
NM_001330751.1:c.1221G>A
NP_001317680.1:p.Gln407=
NM_001330752.1:c.1170G>A
NP_001317681.1:p.Gln390=
NM_001330753.1:c.825G>A
NP_001317682.1:p.Gln275=
NM_001354825.1:c.1221G>A
NP_001341754.1:p.Gln407=
NM_001354826.1:c.825G>A
NP_001341755.1:p.Gln275=
NM_001354827.1:c.1221G>A
NP_001341756.1:p.Gln407=
NM_013261.4:c.1206G>A
NP_037393.1:p.Gln402=
NR_148981.1:n.1733G>A
NR_148982.1:n.1806G>A
NR_148983.1:n.1959G>A
NR_148984.1:n.1357G>A
NR_148985.1:n.1871G>A
NR_148986.1:n.1876G>A
NR_148987.1:n.1958G>A
XM_005248131.5:c.1218G>A
XP_005248188.1:p.Gln406=
XM_005248134.4:c.1221G>A
XP_005248191.1:p.Gln407=
XM_011513769.2:c.1221G>A
XP_011512071.1:p.Gln407=
XM_024453878.1:c.1221G>A
XP_024309646.1:p.Gln407=
NM_013261.5:c.1206G>A
MANE Select
NP_037393.1:p.Gln402=
NM_001330751.2:c.1221G>A
NP_001317680.1:p.Gln407=
NM_001330752.2:c.1170G>A
NP_001317681.1:p.Gln390=
NM_001354825.2:c.1221G>A
NP_001341754.1:p.Gln407=
NM_001354826.2:c.825G>A
NP_001341755.1:p.Gln275=
NM_001354827.2:c.1221G>A
NP_001341756.1:p.Gln407=
NR_148981.2:n.1809G>A
NR_148982.2:n.1882G>A
NR_148983.2:n.2035G>A
NR_148984.2:n.1327G>A
NR_148985.2:n.1947G>A
NR_148986.2:n.1952G>A
NR_148987.2:n.2034G>A
NM_001330753.2:c.825G>A
NP_001317682.1:p.Gln275=