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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.100281244C>T , CM000677.2:g.100281244C>T
GRCh38
NC_000015.9:g.100821449C>T , CM000677.1:g.100821449C>T
GRCh37
NC_000015.8:g.98638972C>T
NCBI36
NG_016287.1:g.65735G>A
NG_016287.2:g.65735G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000268070.9:c.774G>A
MANE Select
ENSP00000268070.4:p.Leu258=
ENST00000568565.2:c.774G>A
ENSP00000456161.2:p.Leu258=
ENST00000268070.8:c.774G>A
ENSP00000268070.4:p.Leu258=
ENST00000378898.8:n.455G>A
ENST00000558960.1:c.*196G>A
ENSP00000453604.1:n.*196G>A
NM_139057.2:c.774G>A
NP_620688.2:p.Leu258=
XM_005254872.2:c.774G>A
XP_005254929.1:p.Leu258=
XM_011521312.1:c.774G>A
XP_011519614.1:p.Leu258=
NM_139057.3:c.774G>A
NP_620688.2:p.Leu258=
XM_005254872.3:c.774G>A
XP_005254929.1:p.Leu258=
XM_011521312.2:c.774G>A
XP_011519614.1:p.Leu258=
XM_017021973.2:c.774G>A
XP_016877462.1:p.Leu258=
XM_017021974.1:c.774G>A
XP_016877463.1:p.Leu258=
XM_017021975.1:c.774G>A
XP_016877464.1:p.Leu258=
XM_017021976.1:c.45G>A
XP_016877465.1:p.Leu15=
XM_017021977.1:c.774G>A
XP_016877466.1:p.Leu258=
XM_017021981.1:c.774G>A
XP_016877470.1:p.Leu258=
XM_017021984.1:c.45G>A
XP_016877473.1:p.Leu15=
XR_001751118.1:n.1796G>A
XR_001751119.1:n.1796G>A
XR_001751120.1:n.1796G>A
NM_139057.4:c.774G>A
MANE Select
NP_620688.2:p.Leu258=