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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.18120044C= , CM000679.2:g.18120044C=
GRCh38
NC_000017.10:g.18023358C= , CM000679.1:g.18023358C=
GRCh37
NC_000017.9:g.17964083C=
NCBI36
NG_011634.1:g.16339C=
NG_011634.2:g.16339C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000647165.2:c.1244C=
MANE Select
ENSP00000495481.1:p.Pro415=
ENST00000205890.9:c.1244C=
ENSP00000205890.5:p.Pro415=
ENST00000583079.1:n.877C=
ENST00000615845.4:c.1244C=
ENSP00000481642.1:p.Pro415=
NM_016239.3:c.1244C=
NP_057323.3:p.Pro415=
XM_011523917.1:c.1244C=
XP_011522219.1:p.Pro415=
XM_011523918.1:c.1244C=
XP_011522220.1:p.Pro415=
XM_011523919.1:c.1244C=
XP_011522221.1:p.Pro415=
XM_011523920.1:c.1244C=
XP_011522222.1:p.Pro415=
XM_011523921.1:c.1244C=
XP_011522223.1:p.Pro415=
XR_934037.1:n.1903C=
XR_934038.1:n.1903C=
XR_934039.1:n.1903C=
XM_011523918.2:c.1244C=
XP_011522220.1:p.Pro415=
XM_017024714.2:c.1244C=
XP_016880203.1:p.Pro415=
XM_017024715.2:c.1244C=
XP_016880204.1:p.Pro415=
XM_024450780.1:c.1244C=
XP_024306548.1:p.Pro415=
XM_024450781.1:c.1244C=
XP_024306549.1:p.Pro415=
XM_024450782.1:c.1244C=
XP_024306550.1:p.Pro415=
XR_934039.2:n.1942C=
NM_016239.4:c.1244C=
MANE Select
NP_057323.3:p.Pro415=