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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.4699302C= , CM000682.2:g.4699302C=
GRCh38
NC_000020.10:g.4679948C= , CM000682.1:g.4679948C=
GRCh37
NC_000020.9:g.4627948C=
NCBI36
NG_009087.1:g.18152C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000379440.9:c.82C=
MANE Select
ENSP00000368752.4:p.Pro28=
ENST00000424424.2:c.82C=
ENSP00000411599.2:p.Pro28=
ENST00000457586.2:c.82C=
ENSP00000415284.2:p.Pro28=
ENST00000379440.8:c.82C=
ENSP00000368752.4:p.Pro28=
ENST00000424424.1:c.82C=
ENSP00000411599.1:p.Pro28=
ENST00000430350.2:c.82C=
ENSP00000399376.2:p.Pro28=
ENST00000457586.1:c.82C=
ENSP00000415284.1:p.Pro28=
NM_000311.3:c.82C=
NP_000302.1:p.Pro28=
NM_001080121.1:c.82C=
NP_001073590.1:p.Pro28=
NM_001080122.1:c.82C=
NP_001073591.1:p.Pro28=
NM_001080123.1:c.82C=
NP_001073592.1:p.Pro28=
NM_001271561.1:c.-8C=
NP_001258490.1:n.-8C=
NM_183079.2:c.82C=
NP_898902.1:p.Pro28=
NM_000311.4:c.82C=
NP_000302.1:p.Pro28=
NM_001080121.2:c.82C=
NP_001073590.1:p.Pro28=
NM_001080122.2:c.82C=
NP_001073591.1:p.Pro28=
NM_001080123.2:c.82C=
NP_001073592.1:p.Pro28=
NM_001271561.2:c.-8C=
NP_001258490.1:n.-8C=
NM_183079.3:c.82C=
NP_898902.1:p.Pro28=
NM_000311.5:c.82C=
MANE Select
NP_000302.1:p.Pro28=
NM_001080121.3:c.82C=
NP_001073590.1:p.Pro28=
NM_001080122.3:c.82C=
NP_001073591.1:p.Pro28=
NM_001080123.3:c.82C=
NP_001073592.1:p.Pro28=
NM_001271561.3:c.-8C=
NP_001258490.1:n.-8C=
NM_183079.4:c.82C=
NP_898902.1:p.Pro28=