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:
103172
ClinVar RCV Id:
RCV000089432
dbSNP Id:
rs199476300
gnomAD v2:
16-57076077-G-A
gnomAD v3:
16-57042165-G-A
gnomAD v4:
16-57042165-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57042165G>A , CM000678.2:g.57042165G>A | GRCh38 |
| NC_000016.9:g.57076077G>A , CM000678.1:g.57076077G>A | GRCh37 |
| NC_000016.8:g.55633578G>A | NCBI36 |
| NG_030337.1:g.30092G>A | |
| NG_030337.3:g.57681G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688547.1:c.3113+100G>A MANE Select | ENSP00000509992.1:n.3113+100G>A | |
| ENST00000262510.10:c.3113+100G>A | ENSP00000262510.6:n.3113+100G>A | |
| ENST00000436936.5:c.3113+100G>A | ENSP00000389739.2:n.3113+100G>A | |
| ENST00000538110.5:c.1634+100G>A | ENSP00000441597.1:n.1634+100G>A | |
| ENST00000538453.5:c.566+100G>A | ENSP00000444773.1:n.566+100G>A | |
| ENST00000538778.5:n.251+100G>A | ||
| ENST00000538805.5:c.2370+100G>A | ||
| ENST00000538930.5:n.254+591G>A | ||
| ENST00000539144.5:c.3113+100G>A | ENSP00000441727.1:n.3113+100G>A | |
| ENST00000539881.5:c.*1433+100G>A | ENSP00000441679.1:n.*1433+100G>A | |
| ENST00000540182.5:c.205+100G>A | ||
| ENST00000541020.1:n.171+100G>A | ||
| ENST00000543030.5:c.1010+100G>A | ENSP00000440153.1:n.1010+100G>A | |
| ENST00000545081.5:c.2295+100G>A | ||
| NM_032206.4:c.3113+100G>A | NP_115582.4:n.3113+100G>A | |
| XM_005256193.1:c.3113+100G>A | XP_005256250.1:n.3113+100G>A | |
| XM_005256194.2:c.3113+100G>A | XP_005256251.1:n.3113+100G>A | |
| XM_005256195.1:c.3113+100G>A | XP_005256252.1:n.3113+100G>A | |
| XM_005256196.1:c.3029+100G>A | XP_005256253.1:n.3029+100G>A | |
| XM_005256197.1:c.3113+100G>A | XP_005256254.1:n.3113+100G>A | |
| XM_005256199.2:c.3113+100G>A | XP_005256256.1:n.3113+100G>A | |
| XM_005256201.2:c.3113+100G>A | XP_005256258.1:n.3113+100G>A | |
| XM_006721297.1:c.3113+100G>A | XP_006721360.1:n.3113+100G>A | |
| XM_006721298.1:c.3113+100G>A | XP_006721361.1:n.3113+100G>A | |
| XM_006721300.2:c.3113+100G>A | XP_006721363.1:n.3113+100G>A | |
| XM_011523373.1:c.3113+100G>A | XP_011521675.1:n.3113+100G>A | |
| XM_011523374.1:c.3113+100G>A | XP_011521676.1:n.3113+100G>A | |
| XM_011523375.1:c.3113+100G>A | XP_011521677.1:n.3113+100G>A | |
| XM_011523376.1:c.977+100G>A | XP_011521678.1:n.977+100G>A | |
| XR_429733.1:n.3301+100G>A | ||
| XR_429734.1:n.3301+100G>A | ||
| XR_933458.1:n.3301+100G>A | ||
| NM_001330552.1:c.3113+100G>A | NP_001317481.1:n.3113+100G>A | |
| XM_005256193.2:c.3113+100G>A | XP_005256250.1:n.3113+100G>A | |
| XM_005256194.4:c.3113+100G>A | XP_005256251.1:n.3113+100G>A | |
| XM_005256195.2:c.3113+100G>A | XP_005256252.1:n.3113+100G>A | |
| XM_005256196.2:c.3029+100G>A | XP_005256253.1:n.3029+100G>A | |
| XM_005256197.2:c.3113+100G>A | XP_005256254.1:n.3113+100G>A | |
| XM_005256199.3:c.3113+100G>A | XP_005256256.1:n.3113+100G>A | |
| XM_005256201.3:c.3113+100G>A | XP_005256258.1:n.3113+100G>A | |
| XM_006721297.2:c.3113+100G>A | XP_006721360.1:n.3113+100G>A | |
| XM_006721298.2:c.3113+100G>A | XP_006721361.1:n.3113+100G>A | |
| XM_011523373.2:c.3113+100G>A | XP_011521675.1:n.3113+100G>A | |
| XM_011523375.3:c.3113+100G>A | XP_011521677.1:n.3113+100G>A | |
| XM_011523376.2:c.977+100G>A | XP_011521678.1:n.977+100G>A | |
| XM_017023769.1:c.3113+100G>A | XP_016879258.1:n.3113+100G>A | |
| XM_017023770.1:c.3113+100G>A | XP_016879259.1:n.3113+100G>A | |
| XM_017023771.2:c.3113+100G>A | XP_016879260.1:n.3113+100G>A | |
| XR_001751997.1:n.3301+100G>A | ||
| XR_001751998.1:n.3301+100G>A | ||
| XR_001751999.1:n.3301+100G>A | ||
| XR_001752000.1:n.3301+100G>A | ||
| XR_429734.2:n.3301+100G>A | ||
| NM_001330552.2:c.3113+100G>A | NP_001317481.1:n.3113+100G>A | |
| NM_001384950.1:c.3113+100G>A MANE Select | NP_001371879.1:n.3113+100G>A | |
| NM_001384951.1:c.3113+100G>A | NP_001371880.1:n.3113+100G>A | |
| NM_001384952.1:c.3113+100G>A | NP_001371881.1:n.3113+100G>A | |
| NM_001384953.1:c.3113+100G>A | NP_001371882.1:n.3113+100G>A | |
| NM_001384954.1:c.3113+100G>A | NP_001371883.1:n.3113+100G>A | |
| NM_001384955.1:c.3113+100G>A | NP_001371884.1:n.3113+100G>A | |
| NM_001384956.1:c.3113+100G>A | NP_001371885.1:n.3113+100G>A | |
| NM_001384957.1:c.3113+100G>A | NP_001371886.1:n.3113+100G>A | |
| NM_001384958.1:c.3113+100G>A | NP_001371887.1:n.3113+100G>A | |
| NM_001384959.1:c.3113+100G>A | NP_001371888.1:n.3113+100G>A | |
| NM_001384960.1:c.3029+100G>A | NP_001371889.1:n.3029+100G>A | |
| NM_001384961.1:c.3113+100G>A | NP_001371890.1:n.3113+100G>A | |
| NM_001384962.1:c.3113+100G>A | NP_001371891.1:n.3113+100G>A | |
| NM_001384963.1:c.3113+100G>A | NP_001371892.1:n.3113+100G>A | |
| NM_001384964.1:c.3113+100G>A | NP_001371893.1:n.3113+100G>A | |
| NM_001384965.1:c.3029+100G>A | NP_001371894.1:n.3029+100G>A | |
| NM_001384966.1:c.3113+100G>A | NP_001371895.1:n.3113+100G>A | |
| NM_001384967.1:c.3113+100G>A | NP_001371896.1:n.3113+100G>A | |
| NM_001384968.1:c.3113+100G>A | NP_001371897.1:n.3113+100G>A | |
| NM_001384969.1:c.3113+100G>A | NP_001371898.1:n.3113+100G>A | |
| NM_001384970.1:c.3113+100G>A | NP_001371899.1:n.3113+100G>A | |
| NM_001384971.1:c.3113+100G>A | NP_001371900.1:n.3113+100G>A | |
| NM_001384972.1:c.2873+100G>A | NP_001371901.1:n.2873+100G>A | |
| NM_001384973.1:c.3113+100G>A | NP_001371902.1:n.3113+100G>A | |
| NM_032206.5:c.3113+100G>A | NP_115582.4:n.3113+100G>A | |
| NR_169512.1:n.3327+100G>A | ||
| NR_169513.1:n.3319+100G>A | ||
| NR_169514.1:n.3190+100G>A | ||
| NR_169515.1:n.3293+100G>A | ||
| NR_169516.1:n.3258+100G>A | ||
| NR_169517.1:n.3301+100G>A | ||
| NR_169518.1:n.3341+100G>A | ||
| NR_169519.1:n.3279+100G>A | ||
| NR_169520.1:n.3349+100G>A |