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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.2697872C= , CM000680.2:g.2697872C=
GRCh38
NC_000018.9:g.2697870C= , CM000680.1:g.2697870C=
GRCh37
NC_000018.8:g.2687870C=
NCBI36
NG_031972.1:g.46985C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000684915.1:n.1330C=
ENST00000688342.1:c.1173C=
ENSP00000508422.1:p.Asn391=
ENST00000693213.1:n.451C=
ENST00000320876.11:c.1173C=
MANE Select
ENSP00000326603.7:p.Asn391=
ENST00000320876.10:c.1173C=
ENSP00000326603.6:p.Asn391=
NM_015295.2:c.1173C=
NP_056110.2:p.Asn391=
XM_011525642.1:c.1173C=
XP_011523944.1:p.Asn391=
XM_011525643.1:c.1173C=
XP_011523945.1:p.Asn391=
XM_011525644.1:c.789C=
XP_011523946.1:p.Asn263=
XM_011525645.1:c.609C=
XP_011523947.1:p.Asn203=
XM_011525646.1:c.1173C=
XP_011523948.1:p.Asn391=
XM_011525647.1:c.1173C=
XP_011523949.1:p.Asn391=
XR_430039.1:n.1362C=
XR_935054.1:n.1362C=
XR_935055.1:n.1362C=
XM_011525643.2:c.1173C=
XP_011523945.1:p.Asn391=
XM_017025684.1:c.609C=
XP_016881173.1:p.Asn203=
XR_001753172.1:n.1362C=
XR_001753173.1:n.1362C=
XR_001753174.1:n.1362C=
XR_001753175.1:n.1362C=
XR_001753176.1:n.1362C=
XR_001753177.1:n.1362C=
XR_001753178.1:n.1362C=
XR_001753179.1:n.1362C=
XR_935055.2:n.1362C=
NM_015295.3:c.1173C=
MANE Select
NP_056110.2:p.Asn391=