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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.50818910G>C , CM000668.2:g.50818910G>C
GRCh38
NC_000006.11:g.50786623G>C , CM000668.1:g.50786623G>C
GRCh37
NC_000006.10:g.50894582G>C
NCBI36
NG_008438.1:g.5185G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000393655.4:c.19G>C
MANE Select
ENSP00000377265.2:p.Asp7His
ENST00000344788.7:c.-15G>C
ENSP00000342252.3:n.-15G>C
ENST00000393655.3:c.19G>C
ENSP00000377265.2:p.Asp7His
NM_003221.3:c.19G>C
NP_003212.2:p.Asp7His
XM_006715176.2:c.19G>C
XP_006715239.1:p.Asp7His
XM_011514834.1:c.19G>C
XP_011513136.1:p.Asp7His
XM_011514835.1:c.19G>C
XP_011513137.1:p.Asp7His
XM_011514836.1:c.19G>C
XP_011513138.1:p.Asp7His
XM_011514837.1:c.19G>C
XP_011513139.1:p.Asp7His
XM_011514837.2:c.19G>C
XP_011513139.1:p.Asp7His
XM_017011233.1:c.111G>C
XP_016866722.1:p.Glu37Asp
XM_017011234.1:c.75G>C
XP_016866723.1:p.Glu25Asp
XM_017011235.2:c.19G>C
XP_016866724.1:p.Asp7His
NM_003221.4:c.19G>C
MANE Select
NP_003212.2:p.Asp7His