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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.104831653T= , CM000671.2:g.104831653T=
GRCh38
NC_000009.11:g.107593934T= , CM000671.1:g.107593934T=
GRCh37
NC_000009.10:g.106633755T=
NCBI36
NG_007981.1:g.101503A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374736.8:c.1684A=
MANE Select
ENSP00000363868.3:p.Asn562=
ENST00000678995.1:c.1684A=
ENSP00000504612.1:p.Asn562=
ENST00000374736.7:c.1684A=
ENSP00000363868.3:p.Asn562=
NM_005502.3:c.1684A=
NP_005493.2:p.Asn562=
XM_005251773.1:c.1684A=
XP_005251830.1:p.Asn562=
XM_005251776.1:c.1504A=
XP_005251833.1:p.Asn502=
XM_011518339.1:c.1759A=
XP_011516641.1:p.Asn587=
XM_011518340.1:c.1759A=
XP_011516642.1:p.Asn587=
XM_011518341.1:c.1759A=
XP_011516643.1:p.Asn587=
XM_011518342.1:c.1321A=
XP_011516644.1:p.Asn441=
XM_011518343.1:c.1759A=
XP_011516645.1:p.Asn587=
XM_011518344.1:c.1759A=
XP_011516646.1:p.Asn587=
XM_005251773.3:c.1684A=
XP_005251830.1:p.Asn562=
XM_005251776.3:c.1504A=
XP_005251833.1:p.Asn502=
XM_011518339.3:c.1759A=
XP_011516641.1:p.Asn587=
XM_011518340.3:c.1759A=
XP_011516642.1:p.Asn587=
XM_011518341.3:c.1759A=
XP_011516643.1:p.Asn587=
XM_011518342.3:c.1321A=
XP_011516644.1:p.Asn441=
XM_011518344.2:c.1759A=
XP_011516646.1:p.Asn587=
XM_017014378.2:c.1759A=
XP_016869867.1:p.Asn587=
XM_017014379.2:c.1759A=
XP_016869868.1:p.Asn587=
XM_017014380.2:c.1759A=
XP_016869869.1:p.Asn587=
XM_017014381.2:c.1759A=
XP_016869870.1:p.Asn587=
XM_017014382.2:c.1621A=
XP_016869871.1:p.Asn541=
XR_001746223.1:n.2072A=
NM_005502.4:c.1684A=
MANE Select
NP_005493.2:p.Asn562=