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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.100194041G>A , CM000672.2:g.100194041G>A
GRCh38
NC_000010.10:g.101953798G>A , CM000672.1:g.101953798G>A
GRCh37
NC_000010.9:g.101943788G>A
NCBI36
NG_028023.1:g.40547C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000370397.8:c.1917C>T
MANE Select
ENSP00000359424.6:p.Val639=
ENST00000370397.7:c.1917C>T
ENSP00000359424.6:p.Val639=
ENST00000588656.1:n.39C>T
ENST00000590930.5:n.1902C>T
NM_001278.3:c.1917C>T
NP_001269.3:p.Val639=
XM_011539196.1:c.1917C>T
XP_011537498.1:p.Val639=
XM_011539197.1:c.1917C>T
XP_011537499.1:p.Val639=
XM_011539198.1:c.1917C>T
XP_011537500.1:p.Val639=
XR_945589.1:n.1995C>T
NM_001278.4:c.1917C>T
NP_001269.3:p.Val639=
NM_001320928.1:c.1917C>T
NP_001307857.1:p.Val639=
XM_017015611.1:c.1917C>T
XP_016871100.1:p.Val639=
XM_017015613.1:c.705C>T
XP_016871102.1:p.Val235=
XR_001747010.1:n.1995C>T
XR_001747011.1:n.1892C>T
NM_001278.5:c.1917C>T
MANE Select
NP_001269.3:p.Val639=
NM_001320928.2:c.1917C>T
NP_001307857.1:p.Val639=