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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.21978933T>C , CM000685.2:g.21978933T>C
GRCh38
NC_000023.10:g.21997051T>C , CM000685.1:g.21997051T>C
GRCh37
NC_000023.9:g.21906972T>C
NCBI36
NG_009228.1:g.43210T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000404933.7:c.717T>C
MANE Select
ENSP00000385746.2:p.Asp239=
ENST00000379404.5:c.558T>C
ENSP00000368714.1:p.Asp186=
ENST00000404933.6:c.717T>C
ENSP00000385746.2:p.Asp239=
NM_001258423.1:c.558T>C
NP_001245352.1:p.Asp186=
NM_004595.4:c.717T>C
NP_004586.2:p.Asp239=
XM_005274582.1:c.615T>C
XP_005274639.1:p.Asp205=
XM_011545568.1:c.615T>C
XP_011543870.1:p.Asp205=
XM_005274582.2:c.615T>C
XP_005274639.1:p.Asp205=
XM_011545568.2:c.615T>C
XP_011543870.1:p.Asp205=
XM_017029753.2:c.717T>C
XP_016885242.1:p.Asp239=
XM_017029754.1:c.615T>C
XP_016885243.1:p.Asp205=
XM_017029755.1:c.615T>C
XP_016885244.1:p.Asp205=
XM_024452427.1:c.615T>C
XP_024308195.1:p.Asp205=
NM_004595.5:c.717T>C
MANE Select
NP_004586.2:p.Asp239=
NM_001258423.2:c.558T>C
NP_001245352.1:p.Asp186=