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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.85964005T= , CM000685.2:g.85964005T=
GRCh38
NC_000023.10:g.85219010T= , CM000685.1:g.85219010T=
GRCh37
NC_000023.9:g.85105666T=
NCBI36
NG_009874.2:g.88558A= , LRG_699:g.88558A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357749.7:c.362A=
MANE Select
ENSP00000350386.2:p.Asn121=
ENST00000357749.6:c.362A=
ENSP00000350386.2:p.Asn121=
ENST00000467744.2:n.126+63486A=
NM_000390.2:c.362A= , LRG_699t1:c.362A=
NP_000381.1:p.Asn121=
XM_006724615.2:c.299A=
XP_006724678.1:p.Asn100=
XM_011530839.1:c.-83A=
XP_011529141.1:n.-83A=
NM_000390.3:c.362A=
NP_000381.1:p.Asn121=
NM_001320959.1:c.-83A=
NP_001307888.1:n.-83A=
NM_001362517.1:c.-83A=
NP_001349446.1:n.-83A=
NM_001362518.1:c.-83A=
NP_001349447.1:n.-83A=
NM_001362519.1:c.-83A=
NP_001349448.1:n.-83A=
XM_017029242.2:c.362A=
XP_016884731.1:p.Asn121=
XM_017029246.1:c.-83A=
XP_016884735.1:n.-83A=
XM_024452331.1:c.-83A=
XP_024308099.1:n.-83A=
NM_000390.4:c.362A=
MANE Select
NP_000381.1:p.Asn121=
NM_001362518.2:c.-83A=
NP_001349447.1:n.-83A=