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:
1860
ClinVar RCV Id:
RCV000001937
dbSNP Id:
rs387906264
gnomAD v4:
2-86254816-T-C
PubMed:
PMID:16826527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86254816T>C , CM000664.2:g.86254816T>C | GRCh38 |
| NC_000002.11:g.86481939T>C , CM000664.1:g.86481939T>C | GRCh37 |
| NC_000002.10:g.86335450T>C | NCBI36 |
| NG_013037.1:g.88268A>G , LRG_713:g.88268A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.183-2A>G | ENSP00000495610.2:n.183-2A>G | |
| ENST00000686220.1:c.102-2A>G | ENSP00000509904.1:n.102-2A>G | |
| ENST00000688400.1:c.106-22014A>G | ENSP00000510490.1:n.106-22014A>G | |
| ENST00000689156.1:c.183-2A>G | ENSP00000509143.1:n.183-2A>G | |
| ENST00000691093.1:c.3-2A>G | ENSP00000509465.1:n.3-2A>G | |
| ENST00000691703.1:c.183-2A>G | ENSP00000508496.1:n.183-2A>G | |
| ENST00000692664.1:c.33-2A>G | ENSP00000508656.1:n.33-2A>G | |
| ENST00000693329.1:c.183-2A>G | ENSP00000508490.1:n.183-2A>G | |
| ENST00000453231.6:c.204-2A>G | ENSP00000392197.2:n.204-2A>G | |
| ENST00000535845.6:c.102-2A>G | ENSP00000437567.1:n.102-2A>G | |
| ENST00000538924.7:c.183-2A>G MANE Select | ENSP00000438346.3:n.183-2A>G | |
| ENST00000541910.6:c.182+9149A>G | ENSP00000442681.1:n.182+9149A>G | |
| ENST00000642243.1:c.141-2A>G | ENSP00000494960.1:n.141-2A>G | |
| ENST00000643817.1:c.141-2A>G | ENSP00000495610.1:n.141-2A>G | |
| ENST00000644644.1:c.141-2A>G | ENSP00000494305.1:n.141-2A>G | |
| ENST00000165698.9:c.183-2A>G | ENSP00000165698.5:n.183-2A>G | |
| ENST00000428491.5:c.102-2A>G | ENSP00000400607.1:n.102-2A>G | |
| ENST00000437769.5:c.182+9149A>G | ENSP00000401140.1:n.182+9149A>G | |
| ENST00000453231.5:c.204-2A>G | ENSP00000392197.1:n.204-2A>G | |
| ENST00000473407.5:n.273-2A>G | ||
| ENST00000489855.2:c.119-2A>G | ||
| ENST00000490915.5:n.203A>G | ||
| ENST00000535845.5:c.102-2A>G | ENSP00000437567.1:n.102-2A>G | |
| ENST00000538924.5:c.204-2A>G | ENSP00000438346.1:n.204-2A>G | |
| ENST00000541910.5:c.182+9149A>G | ENSP00000442681.1:n.182+9149A>G | |
| NM_001164730.1:c.204-2A>G , LRG_713t1:c.204-2A>G | NP_001158202.1:n.204-2A>G | |
| NM_001164731.1:c.102-2A>G | NP_001158203.1:n.102-2A>G | |
| NM_001164732.1:c.182+9149A>G | NP_001158204.1:n.182+9149A>G | |
| NM_022912.2:c.183-2A>G , LRG_713t2:c.183-2A>G | NP_075063.1:n.183-2A>G | |
| XM_005264502.1:c.183-2A>G | XP_005264559.1:n.183-2A>G | |
| XM_005264504.1:c.69-2A>G | XP_005264561.1:n.69-2A>G | |
| XM_011533043.1:c.204-2A>G | XP_011531345.1:n.204-2A>G | |
| XM_011533044.1:c.165-2A>G | XP_011531346.1:n.165-2A>G | |
| XM_011533045.1:c.159-2A>G | XP_011531347.1:n.159-2A>G | |
| XM_011533046.1:c.204-2A>G | XP_011531348.1:n.204-2A>G | |
| XM_005264502.2:c.183-2A>G | XP_005264559.1:n.183-2A>G | |
| XM_011533045.2:c.159-2A>G | XP_011531347.1:n.159-2A>G | |
| XM_017004725.1:c.204-2A>G | XP_016860214.1:n.204-2A>G | |
| XM_017004726.1:c.204-2A>G | XP_016860215.1:n.204-2A>G | |
| XM_017004727.1:c.204-2A>G | XP_016860216.1:n.204-2A>G | |
| NM_001164730.2:c.204-2A>G | NP_001158202.1:n.204-2A>G | |
| NM_001164731.2:c.102-2A>G | NP_001158203.1:n.102-2A>G | |
| NM_001164732.2:c.182+9149A>G | NP_001158204.1:n.182+9149A>G | |
| NM_001371279.1:c.183-2A>G MANE Select | NP_001358208.1:n.183-2A>G | |
| NM_001371280.1:c.183-2A>G | NP_001358209.1:n.183-2A>G | |
| NM_022912.3:c.183-2A>G | NP_075063.1:n.183-2A>G |