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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63498165G= , CM000679.2:g.63498165G=
GRCh38
NC_000017.10:g.61575526G= , CM000679.1:g.61575526G=
GRCh37
NC_000017.9:g.58929258G=
NCBI36
NG_011648.1:g.26093G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000290866.10:c.*799G=
MANE Select
ENSP00000290866.4:n.*799G=
ENST00000290866.9:c.*799G=
ENSP00000290866.4:n.*799G=
ENST00000428043.5:c.*1142G=
ENSP00000397593.2:n.*1142G=
ENST00000577647.2:c.1969+1180G=
ENSP00000464149.1:n.1969+1180G=
NM_000789.3:c.*799G=
NP_000780.1:n.*799G=
NM_001178057.1:c.*799G=
NP_001171528.1:n.*799G=
NM_152830.2:c.*799G=
NP_690043.1:n.*799G=
XM_005257110.1:c.*799G=
XP_005257167.1:n.*799G=
XM_006721737.2:c.*799G=
XP_006721800.2:n.*799G=
NM_000789.4:c.*799G=
MANE Select
NP_000780.1:n.*799G=
NM_001178057.2:c.*799G=
NP_001171528.1:n.*799G=
NM_152830.3:c.*799G=
NP_690043.1:n.*799G=
NM_001382700.1:c.*799G=
NP_001369629.1:n.*799G=
NM_001382701.1:c.*799G=
NP_001369630.1:n.*799G=
NM_001382702.1:c.*799G=
NP_001369631.1:n.*799G=
NR_168483.1:n.3098G=