×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.20223482G= , CM000675.2:g.20223482G=
GRCh38
NC_000013.10:g.20797621G= , CM000675.1:g.20797621G=
GRCh37
NC_000013.9:g.19695621G=
NCBI36
NG_008323.1:g.13914C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241124.11:c.-2C=
ENSP00000241124.6:n.-2C=
ENST00000400066.8:c.-2C=
ENSP00000382939.3:n.-2C=
ENST00000636852.1:c.-2C=
ENSP00000489698.1:n.-2C=
ENST00000642251.1:c.-2C=
ENSP00000495437.1:n.-2C=
ENST00000643121.1:c.-2C=
ENSP00000494468.1:n.-2C=
ENST00000643211.1:c.-2C=
ENSP00000495841.1:n.-2C=
ENST00000644236.1:c.-2C=
ENSP00000494122.1:n.-2C=
ENST00000644283.1:c.-2C=
ENSP00000495320.1:n.-2C=
ENST00000644667.1:c.-2C=
ENSP00000493621.1:n.-2C=
ENST00000645654.1:c.-2C=
ENSP00000494720.1:n.-2C=
ENST00000646108.1:c.-2C=
ENSP00000493512.1:n.-2C=
ENST00000647029.1:c.-2C=
MANE Select
ENSP00000493834.1:n.-2C=
ENST00000647243.1:c.-2C=
ENSP00000494733.1:n.-2C=
ENST00000241124.10:c.-2C=
ENSP00000241124.6:n.-2C=
ENST00000356192.6:c.-2C=
ENSP00000348521.6:n.-2C=
ENST00000400065.7:c.-2C=
ENSP00000382938.3:n.-2C=
ENST00000400066.7:c.-2C=
ENSP00000382939.3:n.-2C=
NM_001110219.2:c.-2C=
NP_001103689.1:n.-2C=
NM_001110220.2:c.-2C=
NP_001103690.1:n.-2C=
NM_001110221.2:c.-2C=
NP_001103691.1:n.-2C=
NM_006783.4:c.-2C=
NP_006774.2:n.-2C=
NM_001110219.3:c.-2C=
MANE Select
NP_001103689.1:n.-2C=
NM_001370090.1:c.-2C=
NP_001357019.1:n.-2C=
NM_001370091.1:c.-2C=
NP_001357020.1:n.-2C=
NM_001370092.1:c.-2C=
NP_001357021.1:n.-2C=
NM_001110220.3:c.-2C=
NP_001103690.1:n.-2C=
NM_001110221.3:c.-2C=
NP_001103691.1:n.-2C=
NM_006783.5:c.-2C=
NP_006774.2:n.-2C=