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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49257027A>C , CM000680.2:g.49257027A>C
GRCh38
NC_000018.9:g.46783397A>C , CM000680.1:g.46783397A>C
GRCh37
NC_000018.8:g.45037395A>C
NCBI36
NG_009239.1:g.208683T>G
NG_009239.2:g.208707T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000675505.1:c.1443T>G
MANE Select
ENSP00000501694.1:p.Ala481=
ENST00000269445.10:c.1443T>G
ENSP00000269445.6:p.Ala481=
ENST00000442713.6:c.873T>G
ENSP00000395942.2:p.Ala291=
ENST00000582399.1:c.107T>G
NM_017653.3:c.1443T>G
NP_060123.3:p.Ala481=
XM_006722488.2:c.1443T>G
XP_006722551.1:p.Ala481=
XM_006722490.2:c.1443T>G
XP_006722553.1:p.Ala481=
XM_006722491.1:c.1443T>G
XP_006722554.1:p.Ala481=
XM_006722492.2:c.1443T>G
XP_006722555.1:p.Ala481=
XM_011526036.1:c.1443T>G
XP_011524338.1:p.Ala481=
XM_011526037.1:c.1440T>G
XP_011524339.1:p.Ala480=
XM_011526038.1:c.1440T>G
XP_011524340.1:p.Ala480=
XM_011526039.1:c.1443T>G
XP_011524341.1:p.Ala481=
XM_011526040.1:c.1275T>G
XP_011524342.1:p.Ala425=
XM_011526041.1:c.1443T>G
XP_011524343.1:p.Ala481=
XM_011526042.1:c.1443T>G
XP_011524344.1:p.Ala481=
XM_011526043.1:c.1443T>G
XP_011524345.1:p.Ala481=
NM_001353210.1:c.1440T>G
NP_001340139.1:p.Ala480=
NM_001353211.1:c.1440T>G
NP_001340140.1:p.Ala480=
NM_001353212.1:c.1440T>G
NP_001340141.1:p.Ala480=
NM_001353213.1:c.1440T>G
NP_001340142.1:p.Ala480=
NM_001353214.1:c.1443T>G
NP_001340143.1:p.Ala481=
NM_001353215.1:c.1443T>G
NP_001340144.1:p.Ala481=
NM_001353216.1:c.1443T>G
NP_001340145.1:p.Ala481=
NM_017653.4:c.1443T>G
NP_060123.3:p.Ala481=
XM_006722488.3:c.1443T>G
XP_006722551.1:p.Ala481=
XM_006722492.4:c.1443T>G
XP_006722555.1:p.Ala481=
XM_011526036.2:c.1443T>G
XP_011524338.1:p.Ala481=
XM_011526038.2:c.1440T>G
XP_011524340.1:p.Ala480=
XM_011526039.2:c.1443T>G
XP_011524341.1:p.Ala481=
XM_011526041.2:c.1443T>G
XP_011524343.1:p.Ala481=
XM_011526042.2:c.1443T>G
XP_011524344.1:p.Ala481=
XM_017025795.1:c.1437T>G
XP_016881284.1:p.Ala479=
XM_017025796.2:c.1263T>G
XP_016881285.1:p.Ala421=
XM_017025800.2:c.1440T>G
XP_016881289.1:p.Ala480=
XM_017025801.1:c.1437T>G
XP_016881290.1:p.Ala479=
XR_002958177.1:n.1800T>G
NM_001353210.3:c.1440T>G
NP_001340139.1:p.Ala480=
NM_001353211.3:c.1440T>G
NP_001340140.1:p.Ala480=
NM_001353212.3:c.1440T>G
NP_001340141.1:p.Ala480=
NM_001353213.3:c.1440T>G
NP_001340142.1:p.Ala480=
NM_001353214.3:c.1443T>G
MANE Select
NP_001340143.1:p.Ala481=
NM_001353215.3:c.1443T>G
NP_001340144.1:p.Ala481=
NM_001353216.3:c.1443T>G
NP_001340145.1:p.Ala481=
NM_001374428.1:c.1443T>G
NP_001361357.1:p.Ala481=
NM_001374429.1:c.1437T>G
NP_001361358.1:p.Ala479=
NM_001374430.1:c.1443T>G
NP_001361359.1:p.Ala481=
NM_001374431.1:c.1443T>G
NP_001361360.1:p.Ala481=
NM_001374432.1:c.1317T>G
NP_001361361.1:p.Ala439=
NM_001374433.1:c.1443T>G
NP_001361362.1:p.Ala481=
NM_001374434.1:c.1443T>G
NP_001361363.1:p.Ala481=
NM_001374435.1:c.1440T>G
NP_001361364.1:p.Ala480=
NM_001374436.1:c.1317T>G
NP_001361365.1:p.Ala439=
NM_001374437.1:c.1260T>G
NP_001361366.1:p.Ala420=
NM_001374438.1:c.1440T>G
NP_001361367.1:p.Ala480=
NM_001374439.1:c.1437T>G
NP_001361368.1:p.Ala479=
NM_001374440.1:c.1215T>G
NP_001361369.1:p.Ala405=
NM_001374441.1:c.873T>G
NP_001361370.1:p.Ala291=
NM_001374442.1:c.873T>G
NP_001361371.1:p.Ala291=
NM_001374443.1:c.870T>G
NP_001361372.1:p.Ala290=
NM_001374444.1:c.873T>G
NP_001361373.1:p.Ala291=
NM_017653.6:c.1443T>G
NP_060123.3:p.Ala481=