Linked Data
ClinVar Variation Id:
11978
ClinVar RCV Id:
RCV000012758
dbSNP Id:
rs121964984
ExAC:
3:49456455 C / G
gnomAD v2:
3-49456455-C-G
gnomAD v4:
3-49419022-C-G
PubMed:
PMID:9621520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49419022C>G , CM000665.2:g.49419022C>G | GRCh38 |
| NC_000003.11:g.49456455C>G , CM000665.1:g.49456455C>G | GRCh37 |
| NC_000003.10:g.49431459C>G | NCBI36 |
| NG_015986.1:g.8657G>C , LRG_537:g.8657G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273588.9:c.826G>C MANE Select | ENSP00000273588.3:p.Asp276His | |
| ENST00000395338.7:c.826G>C | ENSP00000378747.2:p.Asp276His | |
| ENST00000399379.7:c.558G>C | ENSP00000399943.2:n.558G>C | |
| ENST00000427987.6:c.682G>C | ENSP00000403821.2:p.Asp228His | |
| ENST00000430521.2:c.*628G>C | ENSP00000388068.2:n.*628G>C | |
| ENST00000465925.6:n.2828G>C | ||
| ENST00000473163.2:n.3442G>C | ||
| ENST00000476127.6:n.1055G>C | ||
| ENST00000476226.6:n.1247G>C | ||
| ENST00000476828.2:n.1633G>C | ||
| ENST00000478594.6:n.1253G>C | ||
| ENST00000480957.6:n.2827G>C | ||
| ENST00000487589.6:n.739G>C | ||
| ENST00000491800.3:n.3451G>C | ||
| ENST00000493046.6:n.2749+688G>C | ||
| ENST00000538581.6:c.682G>C | ENSP00000443200.2:p.Asp228His | |
| ENST00000635772.1:n.1664G>C | ||
| ENST00000635798.1:n.391+238G>C | ||
| ENST00000635808.1:c.745G>C | ENSP00000489620.1:p.Asp249His | |
| ENST00000635889.1:n.1257G>C | ||
| ENST00000635907.1:n.591+238G>C | ||
| ENST00000635936.1:n.1094G>C | ||
| ENST00000636023.1:c.680G>C | ENSP00000489969.1:p.Ter227Ser | |
| ENST00000636070.1:c.*606G>C | ENSP00000490160.1:n.*606G>C | |
| ENST00000636148.1:n.2879G>C | ||
| ENST00000636166.1:c.1063G>C | ENSP00000490106.1:p.Asp355His | |
| ENST00000636188.1:c.5G>C | ||
| ENST00000636199.1:c.388G>C | ENSP00000490871.1:p.Asp130His | |
| ENST00000636204.1:n.2108G>C | ||
| ENST00000636461.1:c.4360G>C | ||
| ENST00000636522.1:c.658G>C | ENSP00000489758.1:p.Asp220His | |
| ENST00000636587.1:n.912G>C | ||
| ENST00000636597.1:c.550+688G>C | ENSP00000490251.1:n.550+688G>C | |
| ENST00000636725.1:n.1542G>C | ||
| ENST00000636803.1:n.1168G>C | ||
| ENST00000636865.1:c.670G>C | ENSP00000490601.1:p.Asp224His | |
| ENST00000636871.1:n.1191G>C | ||
| ENST00000636978.1:n.938G>C | ||
| ENST00000636991.1:n.1271G>C | ||
| ENST00000637059.1:c.278G>C | ENSP00000490153.1:p.Ter93Ser | |
| ENST00000637088.1:n.5638G>C | ||
| ENST00000637114.1:n.926G>C | ||
| ENST00000637268.1:n.1665G>C | ||
| ENST00000637291.1:n.1560G>C | ||
| ENST00000637442.1:n.3047G>C | ||
| ENST00000637455.1:c.637G>C | ENSP00000489628.1:p.Asp213His | |
| ENST00000637457.1:n.1687G>C | ||
| ENST00000637682.1:c.826G>C | ENSP00000489856.1:p.Asp276His | |
| ENST00000637684.1:n.1036G>C | ||
| ENST00000637821.1:c.*1136G>C | ENSP00000490482.1:n.*1136G>C | |
| ENST00000637914.1:n.2720G>C | ||
| ENST00000637982.1:n.1240G>C | ||
| ENST00000637994.1:n.1366G>C | ||
| ENST00000638014.1:c.3607G>C | ||
| ENST00000638063.1:c.745G>C | ENSP00000489760.1:p.Asp249His | |
| ENST00000638079.1:c.*1338G>C | ENSP00000490120.1:n.*1338G>C | |
| ENST00000638092.1:n.1346G>C | ||
| ENST00000638115.1:c.*2587G>C | ENSP00000490296.1:n.*2587G>C | |
| ENST00000273588.7:c.826G>C | ENSP00000273588.3:p.Asp276His | |
| ENST00000395338.6:c.826G>C | ENSP00000378747.2:p.Asp276His | |
| ENST00000399379.6:c.*606G>C | ENSP00000399943.1:n.*606G>C | |
| ENST00000427987.5:c.818G>C | ||
| ENST00000430521.1:c.658G>C | ENSP00000388068.1:p.Asp220His | |
| ENST00000458307.6:c.694G>C | ENSP00000415619.2:p.Asp232His | |
| ENST00000465925.5:n.2124G>C | ||
| ENST00000473163.1:n.195G>C | ||
| ENST00000476127.5:n.585G>C | ||
| ENST00000476226.5:n.891G>C | ||
| ENST00000491800.2:n.384G>C | ||
| ENST00000495436.5:n.654+238G>C | ||
| ENST00000538581.5:c.658G>C | ENSP00000443200.1:p.Asp220His | |
| NM_000481.3:c.826G>C , LRG_537t1:c.826G>C | NP_000472.2:p.Asp276His | |
| NM_001164710.1:c.694G>C | NP_001158182.1:p.Asp232His | |
| NM_001164711.1:c.658G>C | NP_001158183.1:p.Asp220His | |
| NM_001164712.1:c.826G>C | NP_001158184.1:p.Asp276His | |
| NR_028435.1:n.1040G>C | ||
| NM_000481.4:c.826G>C MANE Select | NP_000472.2:p.Asp276His | |
| NM_001164710.2:c.694G>C | NP_001158182.1:p.Asp232His | |
| NM_001164711.2:c.658G>C | NP_001158183.1:p.Asp220His | |
| NM_001164712.2:c.826G>C | NP_001158184.1:p.Asp276His | |
| NR_028435.2:n.835G>C |