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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.43877601T>C , CM000664.2:g.43877601T>C
GRCh38
NC_000002.11:g.44104740T>C , CM000664.1:g.44104740T>C
GRCh37
NC_000002.10:g.43958244T>C
NCBI36
NG_008884.1:g.43638T>C
NG_008884.2:g.50660T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000272286.4:c.1797T>C
MANE Select
ENSP00000272286.2:p.Cys599=
ENST00000272286.2:c.1797T>C
ENSP00000272286.2:p.Cys599=
NM_022437.2:c.1797T>C
NP_071882.1:p.Cys599=
XM_005264483.2:c.1794T>C
XP_005264540.1:p.Cys598=
XM_011533029.1:c.1809T>C
XP_011531331.1:p.Cys603=
XM_011533030.1:c.1806T>C
XP_011531332.1:p.Cys602=
XM_011533031.1:c.1581T>C
XP_011531333.1:p.Cys527=
XR_939707.1:n.2299T>C
NM_001357321.1:c.1794T>C
NP_001344250.1:p.Cys598=
XM_011533029.2:c.1809T>C
XP_011531331.1:p.Cys603=
XM_011533030.2:c.1806T>C
XP_011531332.1:p.Cys602=
XR_001738891.1:n.2313T>C
XR_939707.2:n.2313T>C
NM_022437.3:c.1797T>C
MANE Select
NP_071882.1:p.Cys599=
NM_001357321.2:c.1794T>C
NP_001344250.1:p.Cys598=