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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.85879052A>G , CM000685.2:g.85879052A>G
GRCh38
NC_000023.10:g.85134057A>G , CM000685.1:g.85134057A>G
GRCh37
NC_000023.9:g.85020713A>G
NCBI36
NG_009874.2:g.173511T>C , LRG_699:g.173511T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357749.7:c.1522T>C
MANE Select
ENSP00000350386.2:p.Leu508=
ENST00000357749.6:c.1522T>C
ENSP00000350386.2:p.Leu508=
ENST00000467744.2:n.127-15958T>C
NM_000390.2:c.1522T>C , LRG_699t1:c.1522T>C
NP_000381.1:p.Leu508=
XM_006724615.2:c.1459T>C
XP_006724678.1:p.Leu487=
XM_011530839.1:c.1078T>C
XP_011529141.1:p.Leu360=
NM_000390.3:c.1522T>C
NP_000381.1:p.Leu508=
NM_001320959.1:c.1078T>C
NP_001307888.1:p.Leu360=
NM_001362517.1:c.1078T>C
NP_001349446.1:p.Leu360=
NM_001362518.1:c.1078T>C
NP_001349447.1:p.Leu360=
NM_001362519.1:c.1078T>C
NP_001349448.1:p.Leu360=
XM_017029242.2:c.1522T>C
XP_016884731.1:p.Leu508=
XM_017029246.1:c.1078T>C
XP_016884735.1:p.Leu360=
XM_024452331.1:c.1078T>C
XP_024308099.1:p.Leu360=
NM_000390.4:c.1522T>C
MANE Select
NP_000381.1:p.Leu508=
NM_001362518.2:c.1078T>C
NP_001349447.1:p.Leu360=