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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121218G>T , CM000669.2:g.96121218G>T
GRCh38
NC_000007.13:g.95750530G>T , CM000669.1:g.95750530G>T
GRCh37
NC_000007.12:g.95588466G>T
NCBI36
NG_012247.1:g.205930C>A
NG_012247.2:g.205930C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.2001C>A
MANE Select
ENSP00000265631.6:p.Thr667=
ENST00000265631.9:c.2001C>A
ENSP00000265631.5:p.Thr667=
ENST00000416240.6:c.2004C>A
ENSP00000400101.2:p.Thr668=
ENST00000494085.1:n.504C>A
NM_001160210.1:c.2004C>A
NP_001153682.1:p.Thr668=
NM_014251.2:c.2001C>A
NP_055066.1:p.Thr667=
NR_027662.1:n.2076C>A
XM_006715831.2:c.2034C>A
XP_006715894.1:p.Thr678=
XM_011515728.1:c.1149C>A
XP_011514030.1:p.Thr383=
XM_006715831.4:c.2034C>A
XP_006715894.1:p.Thr678=
XM_017011663.1:c.1992C>A
XP_016867152.1:p.Thr664=
XM_017011664.2:c.1149C>A
XP_016867153.1:p.Thr383=
XM_017011665.1:c.1149C>A
XP_016867154.1:p.Thr383=
XR_001744525.2:n.2247C>A
XR_002956405.1:n.2805C>A
NM_014251.3:c.2001C>A
MANE Select
NP_055066.1:p.Thr667=
NR_027662.2:n.2027C>A
NM_001160210.2:c.2004C>A
NP_001153682.1:p.Thr668=