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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.43846228G= , CM000664.2:g.43846228G=
GRCh38
NC_000002.11:g.44073367G= , CM000664.1:g.44073367G=
GRCh37
NC_000002.10:g.43926871G=
NCBI36
NG_008884.1:g.12265G=
NG_008884.2:g.19287G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000272286.4:c.239G=
MANE Select
ENSP00000272286.2:p.Cys80=
ENST00000643284.1:n.696G=
ENST00000644611.1:c.251G=
ENSP00000495423.1:p.Cys84=
ENST00000272286.2:c.239G=
ENSP00000272286.2:p.Cys80=
NM_022437.2:c.239G=
NP_071882.1:p.Cys80=
XM_005264483.2:c.239G=
XP_005264540.1:p.Cys80=
XM_011533029.1:c.251G=
XP_011531331.1:p.Cys84=
XM_011533030.1:c.251G=
XP_011531332.1:p.Cys84=
XM_011533031.1:c.23G=
XP_011531333.1:p.Cys8=
XR_939707.1:n.741G=
NM_001357321.1:c.239G=
NP_001344250.1:p.Cys80=
XM_011533029.2:c.251G=
XP_011531331.1:p.Cys84=
XM_011533030.2:c.251G=
XP_011531332.1:p.Cys84=
XR_001738891.1:n.755G=
XR_939707.2:n.755G=
NM_022437.3:c.239G=
MANE Select
NP_071882.1:p.Cys80=
NM_001357321.2:c.239G=
NP_001344250.1:p.Cys80=