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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.80026718C>T , CM000685.2:g.80026718C>T
GRCh38
NC_000023.10:g.79282217C>T , CM000685.1:g.79282217C>T
GRCh37
NC_000023.9:g.79168873C>T
NCBI36
NG_008998.1:g.16963C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373296.8:c.648C>T
MANE Select
ENSP00000362393.3:p.Ser216=
ENST00000373294.8:c.648C>T
ENSP00000362390.5:p.Ser216=
ENST00000373296.7:c.648C>T
ENSP00000362393.3:p.Ser216=
ENST00000626498.2:c.*260C>T
ENSP00000487527.1:n.*260C>T
ENST00000626877.1:n.527C>T
NM_001109878.1:c.648C>T
NP_001103348.1:p.Ser216=
NM_001109879.1:c.288C>T
NP_001103349.1:p.Ser96=
NM_001303475.1:c.288C>T
NP_001290404.1:p.Ser96=
NM_016954.2:c.648C>T
NP_058650.1:p.Ser216=
XM_005262136.2:c.651C>T
XP_005262193.1:p.Ser217=
XM_006724657.2:c.651C>T
XP_006724720.1:p.Ser217=
XM_011530972.1:c.288C>T
XP_011529274.1:p.Ser96=
NM_001109878.2:c.648C>T
MANE Select
NP_001103348.1:p.Ser216=
NM_001109879.2:c.288C>T
NP_001103349.1:p.Ser96=