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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.100573791A= , CM000677.2:g.100573791A=
GRCh38
NC_000015.9:g.101113996A= , CM000677.1:g.101113996A=
GRCh37
NC_000015.8:g.98931519A=
NCBI36
NG_034076.1:g.33450T=
NG_034076.2:g.34242T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000314742.13:c.1082T=
MANE Select
ENSP00000318423.8:p.Phe361=
ENST00000314742.12:c.1082T=
ENSP00000318423.8:p.Phe361=
ENST00000559149.5:n.1239T=
ENST00000560133.5:c.725T=
ENSP00000454929.1:p.Phe242=
ENST00000560783.1:c.51T=
ENST00000561308.5:c.1082T=
ENSP00000454200.1:p.Phe361=
NM_001040616.2:c.1082T=
NP_001035706.1:p.Phe361=
XM_005254941.1:c.1082T=
XP_005254998.1:p.Phe361=
XM_005254943.1:c.1082T=
XP_005255000.1:p.Phe361=
XR_243210.2:n.1185T=
XR_429464.2:n.1185T=
XR_931862.1:n.1185T=
XR_931863.1:n.1185T=
XR_931864.1:n.1185T=
NM_001352507.1:c.335T=
NP_001339436.1:p.Phe112=
NM_001352508.1:c.1037T=
NP_001339437.1:p.Phe346=
NR_148017.1:n.1305T=
NR_148018.1:n.1305T=
NR_148019.1:n.1309T=
XM_005254941.2:c.1082T=
XP_005254998.1:p.Phe361=
XM_005254943.2:c.1082T=
XP_005255000.1:p.Phe361=
XM_017022399.2:c.335T=
XP_016877888.1:p.Phe112=
XM_017022400.2:c.335T=
XP_016877889.1:p.Phe112=
XM_024449979.1:c.1082T=
XP_024305747.1:p.Phe361=
XM_024449980.1:c.1082T=
XP_024305748.1:p.Phe361=
XR_001751346.2:n.2097T=
XR_001751347.2:n.2097T=
XR_001751348.2:n.2097T=
XR_002957655.1:n.2097T=
XR_931862.3:n.2097T=
NM_001040616.3:c.1082T=
MANE Select
NP_001035706.2:p.Phe361=
NM_001352507.2:c.335T=
NP_001339436.1:p.Phe112=
NM_001352508.2:c.1037T=
NP_001339437.1:p.Phe346=
NR_148017.2:n.1249T=
NR_148018.2:n.1249T=
NR_148019.2:n.1253T=