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.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
30039
ClinVar RCV Id:
RCV000022939
dbSNP Id:
rs397514468
PubMed:
PMID:22464252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59193502G>C , CM000667.2:g.59193502G>C | GRCh38 |
| NC_000005.9:g.58489328G>C , CM000667.1:g.58489328G>C | GRCh37 |
| NC_000005.8:g.58525085G>C | NCBI36 |
| NG_027957.1:g.1299598C>G | |
| NG_027957.2:g.1335828C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507116.6:c.490C>G | ENSP00000424852.1:p.Gln164Glu | |
| ENST00000340635.11:c.682C>G MANE Select | ENSP00000345502.6:p.Gln228Glu | |
| ENST00000636120.1:c.352C>G | ENSP00000490821.1:p.Gln118Glu | |
| ENST00000638939.1:c.247C>G | ENSP00000492052.1:p.Gln83Glu | |
| ENST00000309641.10:c.490C>G | ENSP00000308485.6:p.Gln164Glu | |
| ENST00000340635.10:c.682C>G | ENSP00000345502.6:p.Gln228Glu | |
| ENST00000360047.9:c.274C>G | ENSP00000353152.5:p.Gln92Glu | |
| ENST00000405053.7:n.345C>G | ||
| ENST00000405755.6:c.316C>G | ENSP00000384806.2:p.Gln106Glu | |
| ENST00000502484.6:c.499C>G | ENSP00000423094.2:p.Gln167Glu | |
| ENST00000502575.1:c.490C>G | ENSP00000425917.1:p.Gln164Glu | |
| ENST00000503258.5:c.292C>G | ENSP00000425605.1:p.Gln98Glu | |
| ENST00000505453.1:c.-98-154531C>G | ENSP00000421013.1:n.-98-154531C>G | |
| ENST00000507116.5:c.490C>G | ENSP00000424852.1:p.Gln164Glu | |
| ENST00000515324.1:n.194C>G | ||
| ENST00000546160.5:c.289C>G | ENSP00000442734.2:p.Gln97Glu | |
| ENST00000621323.4:n.227C>G | ||
| NM_001104631.1:c.682C>G | NP_001098101.1:p.Gln228Glu | |
| NM_001165899.1:c.499C>G | NP_001159371.1:p.Gln167Glu | |
| NM_001197218.1:c.490C>G | NP_001184147.1:p.Gln164Glu | |
| NM_001197219.1:c.316C>G | NP_001184148.1:p.Gln106Glu | |
| NM_001197220.1:c.292C>G | NP_001184149.1:p.Gln98Glu | |
| NM_006203.4:c.274C>G | NP_006194.2:p.Gln92Glu | |
| XM_005248537.2:c.352C>G | XP_005248594.1:p.Gln118Glu | |
| XM_005248538.3:c.274C>G | XP_005248595.1:p.Gln92Glu | |
| XM_011543469.1:c.646C>G | XP_011541771.1:p.Gln216Glu | |
| XM_011543470.1:c.646C>G | XP_011541772.1:p.Gln216Glu | |
| XM_011543471.1:c.499C>G | XP_011541773.1:p.Gln167Glu | |
| XM_011543472.1:c.499C>G | XP_011541774.1:p.Gln167Glu | |
| XM_011543473.1:c.499C>G | XP_011541775.1:p.Gln167Glu | |
| XM_011543474.1:c.469C>G | XP_011541776.1:p.Gln157Glu | |
| XM_011543475.1:c.316C>G | XP_011541777.1:p.Gln106Glu | |
| XM_011543476.1:c.262C>G | XP_011541778.1:p.Gln88Glu | |
| XM_011543477.1:c.241C>G | XP_011541779.1:p.Gln81Glu | |
| XM_011543478.1:c.178C>G | XP_011541780.1:p.Gln60Glu | |
| XM_011543479.1:c.178C>G | XP_011541781.1:p.Gln60Glu | |
| NM_001349241.1:c.469C>G | NP_001336170.1:p.Gln157Glu | |
| NM_001349242.1:c.352C>G | NP_001336171.1:p.Gln118Glu | |
| NM_001349243.1:c.-13C>G | NP_001336172.1:n.-13C>G | |
| NM_001364599.1:c.499C>G | NP_001351528.1:p.Gln167Glu | |
| NM_001364600.1:c.499C>G | NP_001351529.1:p.Gln167Glu | |
| NM_001364602.1:c.490C>G | NP_001351531.1:p.Gln164Glu | |
| NM_001364603.1:c.-269C>G | NP_001351532.1:n.-269C>G | |
| NM_001364604.1:c.-13C>G | NP_001351533.1:n.-13C>G | |
| XM_011543470.2:c.646C>G | XP_011541772.1:p.Gln216Glu | |
| XM_011543471.2:c.499C>G | XP_011541773.1:p.Gln167Glu | |
| XM_017009565.1:c.646C>G | XP_016865054.1:p.Gln216Glu | |
| XM_017009566.1:c.499C>G | XP_016865055.1:p.Gln167Glu | |
| XM_017009567.1:c.484C>G | XP_016865056.1:p.Gln162Glu | |
| XM_024446110.1:c.646C>G | XP_024301878.1:p.Gln216Glu | |
| XM_024446112.1:c.499C>G | XP_024301880.1:p.Gln167Glu | |
| NM_001104631.2:c.682C>G MANE Select | NP_001098101.1:p.Gln228Glu | |
| NM_001165899.2:c.499C>G | NP_001159371.1:p.Gln167Glu | |
| NM_001197218.2:c.490C>G | NP_001184147.1:p.Gln164Glu | |
| NM_001197219.2:c.316C>G | NP_001184148.1:p.Gln106Glu | |
| NM_001197220.2:c.292C>G | NP_001184149.1:p.Gln98Glu | |
| NM_001349241.2:c.469C>G | NP_001336170.1:p.Gln157Glu | |
| NM_001349243.2:c.-13C>G | NP_001336172.1:n.-13C>G | |
| NM_001364600.2:c.499C>G | NP_001351529.1:p.Gln167Glu | |
| NM_001364602.2:c.490C>G | NP_001351531.1:p.Gln164Glu | |
| NM_001349242.2:c.352C>G | NP_001336171.1:p.Gln118Glu | |
| NM_006203.5:c.274C>G | NP_006194.2:p.Gln92Glu |