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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.155294544C>T , CM000663.2:g.155294544C>T
GRCh38
NC_000001.10:g.155264335C>T , CM000663.1:g.155264335C>T
GRCh37
NC_000001.9:g.153530959C>T
NCBI36
NG_011677.1:g.11891G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000342741.6:c.903G>A
MANE Select
ENSP00000339933.4:p.Leu301=
ENST00000342741.4:c.903G>A
ENSP00000339933.4:p.Leu301=
ENST00000392414.7:c.810G>A
ENSP00000376214.3:p.Leu270=
NM_000298.5:c.903G>A
NP_000289.1:p.Leu301=
NM_181871.3:c.810G>A
NP_870986.1:p.Leu270=
XM_005245266.3:c.1062G>A
XP_005245323.1:p.Leu354=
XM_006711386.2:c.711G>A
XP_006711449.1:p.Leu237=
XM_011509639.1:c.1062G>A
XP_011507941.1:p.Leu354=
XM_011509640.1:c.711G>A
XP_011507942.1:p.Leu237=
NM_000298.6:c.903G>A
MANE Select
NP_000289.1:p.Leu301=
XM_006711386.4:c.711G>A
XP_006711449.1:p.Leu237=
XM_011509640.3:c.711G>A
XP_011507942.1:p.Leu237=
XM_017001493.1:c.903G>A
XP_016856982.1:p.Leu301=
NM_181871.4:c.810G>A
NP_870986.1:p.Leu270=