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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.1584292A>G , CM000678.2:g.1584292A>G
GRCh38
NC_000016.9:g.1634293A>G , CM000678.1:g.1634293A>G
GRCh37
NC_000016.8:g.1574294A>G
NCBI36
NG_032783.1:g.32817T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000426508.7:c.1284T>C
MANE Select
ENSP00000406012.2:p.Asn428=
ENST00000397417.6:c.457T>C
ENSP00000380562.2:p.Cys153Arg
ENST00000426508.6:c.1284T>C
ENSP00000406012.2:p.Asn428=
ENST00000439987.6:n.1345T>C
NM_014714.3:c.1284T>C
NP_055529.2:p.Asn428=
XM_005255725.3:c.1284T>C
XP_005255782.1:p.Asn428=
XM_005255726.2:c.1284T>C
XP_005255783.1:p.Asn428=
XM_006720989.2:c.1284T>C
XP_006721052.1:p.Asn428=
XM_006720990.2:c.1284T>C
XP_006721053.1:p.Asn428=
XM_006720991.2:c.1284T>C
XP_006721054.1:p.Asn428=
XM_011522766.1:c.1284T>C
XP_011521068.1:p.Asn428=
XM_011522767.1:c.309T>C
XP_011521069.1:p.Asn103=
XM_011522768.1:c.1284T>C
XP_011521070.1:p.Asn428=
XM_011522769.1:c.1284T>C
XP_011521071.1:p.Asn428=
XM_011522771.1:c.1284T>C
XP_011521073.1:p.Asn428=
XM_011522772.1:c.1284T>C
XP_011521074.1:p.Asn428=
NR_135176.1:n.59+3707A>G
XM_005255725.5:c.1284T>C
XP_005255782.1:p.Asn428=
XM_005255726.4:c.1284T>C
XP_005255783.1:p.Asn428=
XM_006720990.3:c.1284T>C
XP_006721053.1:p.Asn428=
XM_006720991.3:c.1284T>C
XP_006721054.1:p.Asn428=
XM_011522766.3:c.1284T>C
XP_011521068.1:p.Asn428=
XM_011522767.2:c.309T>C
XP_011521069.1:p.Asn103=
XM_011522769.3:c.1284T>C
XP_011521071.1:p.Asn428=
XM_011522771.3:c.1284T>C
XP_011521073.1:p.Asn428=
XM_011522772.3:c.1284T>C
XP_011521074.1:p.Asn428=
XM_017023910.1:c.1284T>C
XP_016879399.1:p.Asn428=
XM_017023911.1:c.-414T>C
XP_016879400.1:n.-414T>C
NM_014714.4:c.1284T>C
MANE Select
NP_055529.2:p.Asn428=