Linked Data
ClinVar Variation Id:
723098
ClinVar RCV Id:
RCV000896810
dbSNP Id:
rs147480228
ExAC:
16:57095539 G / C
gnomAD v2:
16-57095539-G-C
gnomAD v3:
16-57061627-G-C
gnomAD v4:
16-57061627-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57061627G>C , CM000678.2:g.57061627G>C | GRCh38 |
| NC_000016.9:g.57095539G>C , CM000678.1:g.57095539G>C | GRCh37 |
| NC_000016.8:g.55653040G>C | NCBI36 |
| NG_030337.1:g.49554G>C | |
| NG_030337.3:g.77143G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688547.1:c.4080G>C MANE Select | ENSP00000509992.1:p.Gln1360His | |
| ENST00000262510.10:c.4080G>C | ENSP00000262510.6:p.Gln1360His | |
| ENST00000399221.3:c.334G>C | ||
| ENST00000436936.5:c.4080G>C | ENSP00000389739.2:p.Gln1360His | |
| ENST00000535284.1:n.530G>C | ||
| ENST00000537056.5:c.898G>C | ||
| ENST00000538110.5:c.2508G>C | ENSP00000441597.1:p.Gln836His | |
| ENST00000538453.5:c.1533G>C | ENSP00000444773.1:p.Gln511His | |
| ENST00000538805.5:c.3334G>C | ||
| ENST00000538930.5:n.1218G>C | ||
| ENST00000539144.5:c.3993G>C | ENSP00000441727.1:p.Gln1331His | |
| ENST00000540182.5:c.1085G>C | ||
| ENST00000543030.5:c.1713G>C | ENSP00000440153.1:p.Gln571His | |
| ENST00000543402.1:n.427G>C | ||
| ENST00000545081.5:c.3320G>C | ||
| NM_032206.4:c.4080G>C | NP_115582.4:p.Gln1360His | |
| XM_005256193.1:c.4080G>C | XP_005256250.1:p.Gln1360His | |
| XM_005256194.2:c.4080G>C | XP_005256251.1:p.Gln1360His | |
| XM_005256195.1:c.4077G>C | XP_005256252.1:p.Gln1359His | |
| XM_005256196.1:c.3996G>C | XP_005256253.1:p.Gln1332His | |
| XM_005256197.1:c.3993G>C | XP_005256254.1:p.Gln1331His | |
| XM_005256199.2:c.4077G>C | XP_005256256.1:p.Gln1359His | |
| XM_005256201.2:c.3987G>C | XP_005256258.1:p.Gln1329His | |
| XM_006721297.1:c.4080G>C | XP_006721360.1:p.Gln1360His | |
| XM_006721298.1:c.3990G>C | XP_006721361.1:p.Gln1330His | |
| XM_006721300.2:c.4080G>C | XP_006721363.1:p.Gln1360His | |
| XM_011523373.1:c.4080G>C | XP_011521675.1:p.Gln1360His | |
| XM_011523374.1:c.4080G>C | XP_011521676.1:p.Gln1360His | |
| XM_011523375.1:c.4080G>C | XP_011521677.1:p.Gln1360His | |
| XM_011523376.1:c.1944G>C | XP_011521678.1:p.Gln648His | |
| XR_429733.1:n.4362G>C | ||
| XR_429734.1:n.4326G>C | ||
| XR_933458.1:n.4268G>C | ||
| NM_001330552.1:c.3993G>C | NP_001317481.1:p.Gln1331His | |
| XM_005256193.2:c.4080G>C | XP_005256250.1:p.Gln1360His | |
| XM_005256194.4:c.4080G>C | XP_005256251.1:p.Gln1360His | |
| XM_005256195.2:c.4077G>C | XP_005256252.1:p.Gln1359His | |
| XM_005256196.2:c.3996G>C | XP_005256253.1:p.Gln1332His | |
| XM_005256197.2:c.3993G>C | XP_005256254.1:p.Gln1331His | |
| XM_005256199.3:c.4077G>C | XP_005256256.1:p.Gln1359His | |
| XM_005256201.3:c.3987G>C | XP_005256258.1:p.Gln1329His | |
| XM_006721297.2:c.4080G>C | XP_006721360.1:p.Gln1360His | |
| XM_006721298.2:c.3990G>C | XP_006721361.1:p.Gln1330His | |
| XM_011523373.2:c.4080G>C | XP_011521675.1:p.Gln1360His | |
| XM_011523375.3:c.4080G>C | XP_011521677.1:p.Gln1360His | |
| XM_011523376.2:c.1944G>C | XP_011521678.1:p.Gln648His | |
| XM_017023769.1:c.4080G>C | XP_016879258.1:p.Gln1360His | |
| XM_017023770.1:c.4080G>C | XP_016879259.1:p.Gln1360His | |
| XM_017023771.2:c.4077G>C | XP_016879260.1:p.Gln1359His | |
| XR_001751997.1:n.4268G>C | ||
| XR_001751998.1:n.4265G>C | ||
| XR_001751999.1:n.4181G>C | ||
| XR_001752000.1:n.4326G>C | ||
| XR_429734.2:n.4326G>C | ||
| NM_001330552.2:c.3993G>C | NP_001317481.1:p.Gln1331His | |
| NM_001384950.1:c.4080G>C MANE Select | NP_001371879.1:p.Gln1360His | |
| NM_001384951.1:c.3993G>C | NP_001371880.1:p.Gln1331His | |
| NM_001384952.1:c.4077G>C | NP_001371881.1:p.Gln1359His | |
| NM_001384953.1:c.4077G>C | NP_001371882.1:p.Gln1359His | |
| NM_001384954.1:c.3996G>C | NP_001371883.1:p.Gln1332His | |
| NM_001384955.1:c.4080G>C | NP_001371884.1:p.Gln1360His | |
| NM_001384956.1:c.3993G>C | NP_001371885.1:p.Gln1331His | |
| NM_001384957.1:c.4077G>C | NP_001371886.1:p.Gln1359His | |
| NM_001384958.1:c.3906G>C | NP_001371887.1:p.Gln1302His | |
| NM_001384959.1:c.3903G>C | NP_001371888.1:p.Gln1301His | |
| NM_001384960.1:c.3903G>C | NP_001371889.1:p.Gln1301His | |
| NM_001384961.1:c.4080G>C | NP_001371890.1:p.Gln1360His | |
| NM_001384962.1:c.4080G>C | NP_001371891.1:p.Gln1360His | |
| NM_001384963.1:c.4077G>C | NP_001371892.1:p.Gln1359His | |
| NM_001384964.1:c.4077G>C | NP_001371893.1:p.Gln1359His | |
| NM_001384965.1:c.3996G>C | NP_001371894.1:p.Gln1332His | |
| NM_001384966.1:c.3993G>C | NP_001371895.1:p.Gln1331His | |
| NM_001384967.1:c.3990G>C | NP_001371896.1:p.Gln1330His | |
| NM_001384968.1:c.3987G>C | NP_001371897.1:p.Gln1329His | |
| NM_001384969.1:c.4080G>C | NP_001371898.1:p.Gln1360His | |
| NM_001384970.1:c.4077G>C | NP_001371899.1:p.Gln1359His | |
| NM_001384971.1:c.3993G>C | NP_001371900.1:p.Gln1331His | |
| NM_001384972.1:c.3753G>C | NP_001371901.1:p.Gln1251His | |
| NM_032206.5:c.4080G>C | NP_115582.4:p.Gln1360His | |
| NR_169512.1:n.4207G>C | ||
| NR_169513.1:n.4199G>C | ||
| NR_169514.1:n.4157G>C | ||
| NR_169515.1:n.4167G>C | ||
| NR_169516.1:n.4196G>C | ||
| NR_169517.1:n.4323G>C | ||
| NR_169518.1:n.4305G>C | ||
| NR_169519.1:n.4536G>C | ||
| NR_169520.1:n.4229G>C |