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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.27851431C= , CM000677.2:g.27851431C=
GRCh38
NC_000015.9:g.28096577C= , CM000677.1:g.28096577C=
GRCh37
NC_000015.8:g.25770172C=
NCBI36
NG_009846.1:g.252882G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000354638.8:c.2289G=
MANE Select
ENSP00000346659.3:p.Leu763=
ENST00000353809.9:c.2217G=
ENSP00000261276.8:p.Leu739=
ENST00000354638.7:c.2289G=
ENSP00000346659.3:p.Leu763=
NM_000275.2:c.2289G=
NP_000266.2:p.Leu763=
NM_001300984.1:c.2217G=
NP_001287913.1:p.Leu739=
XM_011521639.1:c.2355G=
XP_011519941.1:p.Leu785=
XM_011521640.1:c.2331G=
XP_011519942.1:p.Leu777=
XM_011521641.1:c.2313G=
XP_011519943.1:p.Leu771=
XM_011521642.1:c.2283G=
XP_011519944.1:p.Leu761=
XM_011521643.1:c.2241G=
XP_011519945.1:p.Leu747=
XM_011521644.1:c.2217G=
XP_011519946.1:p.Leu739=
XM_011521645.1:c.2148G=
XP_011519947.1:p.Leu716=
XM_011521640.2:c.2331G=
XP_011519942.1:p.Leu777=
XM_017022255.1:c.2355G=
XP_016877744.1:p.Leu785=
XM_017022256.1:c.2313G=
XP_016877745.1:p.Leu771=
XM_017022257.1:c.2283G=
XP_016877746.1:p.Leu761=
XM_017022258.1:c.2313G=
XP_016877747.1:p.Leu771=
XM_017022259.1:c.2241G=
XP_016877748.1:p.Leu747=
XM_017022260.1:c.2217G=
XP_016877749.1:p.Leu739=
XM_017022261.1:c.2160G=
XP_016877750.1:p.Leu720=
XM_017022262.1:c.2268+19723G=
XP_016877751.1:n.2268+19723G=
XM_017022263.1:c.2148G=
XP_016877752.1:p.Leu716=
XM_017022264.1:c.2148G=
XP_016877753.1:p.Leu716=
NM_000275.3:c.2289G=
MANE Select
NP_000266.2:p.Leu763=
NM_001300984.2:c.2217G=
NP_001287913.1:p.Leu739=