Linked Data
ClinVar Variation Id:
56230
ClinVar RCV Id:
RCV000049642
dbSNP Id:
rs386833681
PubMed:
PMID:19299230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49421573C>G , CM000665.2:g.49421573C>G | GRCh38 |
| NC_000003.11:g.49459006C>G , CM000665.1:g.49459006C>G | GRCh37 |
| NC_000003.10:g.49434010C>G | NCBI36 |
| NG_015986.1:g.6106G>C , LRG_537:g.6106G>C | |
| NG_033046.1:g.12752G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.259-1G>C MANE Select | ENSP00000273588.3:n.259-1G>C | |
| ENST00000395338.7:c.259-1G>C | ENSP00000378747.2:n.259-1G>C | |
| ENST00000399379.7:c.61-1G>C | ENSP00000399943.2:n.61-1G>C | |
| ENST00000427987.6:c.115-1G>C | ENSP00000403821.2:n.115-1G>C | |
| ENST00000430521.2:c.*61-1G>C | ENSP00000388068.2:n.*61-1G>C | |
| ENST00000462048.2:c.-33-1G>C | ENSP00000490465.1:n.-33-1G>C | |
| ENST00000465925.6:n.278-1G>C | ||
| ENST00000473163.2:n.891G>C | ||
| ENST00000476127.6:n.136-1G>C | ||
| ENST00000476226.6:n.258-1G>C | ||
| ENST00000476828.2:n.231G>C | ||
| ENST00000478594.6:n.264-1G>C | ||
| ENST00000480957.6:n.277-1G>C | ||
| ENST00000485108.6:n.389-1G>C | ||
| ENST00000487589.6:n.172-1G>C | ||
| ENST00000491800.3:n.900G>C | ||
| ENST00000493046.6:n.886G>C | ||
| ENST00000538581.6:c.115-1G>C | ENSP00000443200.2:n.115-1G>C | |
| ENST00000635772.1:n.263-1G>C | ||
| ENST00000635808.1:c.258+531G>C | ENSP00000489620.1:n.258+531G>C | |
| ENST00000635889.1:n.268-1G>C | ||
| ENST00000635936.1:n.251-1G>C | ||
| ENST00000636023.1:c.259-1G>C | ENSP00000489969.1:n.259-1G>C | |
| ENST00000636070.1:c.*39-1G>C | ENSP00000490160.1:n.*39-1G>C | |
| ENST00000636148.1:n.329-1G>C | ||
| ENST00000636166.1:c.496-1G>C | ENSP00000490106.1:n.496-1G>C | |
| ENST00000636199.1:c.258+531G>C | ENSP00000490871.1:n.258+531G>C | |
| ENST00000636204.1:n.1541-1G>C | ||
| ENST00000636461.1:c.3371-1G>C | ||
| ENST00000636522.1:c.91-1G>C | ENSP00000489758.1:n.91-1G>C | |
| ENST00000636587.1:n.491-1G>C | ||
| ENST00000636597.1:c.259-1G>C | ENSP00000490251.1:n.259-1G>C | |
| ENST00000636725.1:n.249-1G>C | ||
| ENST00000636803.1:n.249-1G>C | ||
| ENST00000636865.1:c.115-1G>C | ENSP00000490601.1:n.115-1G>C | |
| ENST00000636871.1:n.202-1G>C | ||
| ENST00000636978.1:n.263-1G>C | ||
| ENST00000636991.1:n.282-1G>C | ||
| ENST00000637059.1:c.69+531G>C | ENSP00000490153.1:n.69+531G>C | |
| ENST00000637088.1:n.4344G>C | ||
| ENST00000637114.1:n.251-1G>C | ||
| ENST00000637268.1:n.264-1G>C | ||
| ENST00000637291.1:n.267-1G>C | ||
| ENST00000637442.1:n.1754-1G>C | ||
| ENST00000637455.1:c.70-1G>C | ENSP00000489628.1:n.70-1G>C | |
| ENST00000637457.1:n.286-1G>C | ||
| ENST00000637682.1:c.259-1G>C | ENSP00000489856.1:n.259-1G>C | |
| ENST00000637684.1:n.361-1G>C | ||
| ENST00000637821.1:c.*39-1G>C | ENSP00000490482.1:n.*39-1G>C | |
| ENST00000637914.1:n.278-1G>C | ||
| ENST00000637982.1:n.251-1G>C | ||
| ENST00000637994.1:n.269-1G>C | ||
| ENST00000638014.1:c.3040-1G>C | ||
| ENST00000638063.1:c.258+531G>C | ENSP00000489760.1:n.258+531G>C | |
| ENST00000638079.1:c.*775-1G>C | ENSP00000490120.1:n.*775-1G>C | |
| ENST00000638092.1:n.249-1G>C | ||
| ENST00000638115.1:c.*2020-1G>C | ENSP00000490296.1:n.*2020-1G>C | |
| ENST00000273588.7:c.259-1G>C | ENSP00000273588.3:n.259-1G>C | |
| ENST00000395338.6:c.259-1G>C | ENSP00000378747.2:n.259-1G>C | |
| ENST00000399379.6:c.*39-1G>C | ENSP00000399943.1:n.*39-1G>C | |
| ENST00000427987.5:c.251-1G>C | ||
| ENST00000430521.1:c.91-1G>C | ENSP00000388068.1:n.91-1G>C | |
| ENST00000458307.6:c.259-1G>C | ENSP00000415619.2:n.259-1G>C | |
| ENST00000461210.1:n.440G>C | ||
| ENST00000462048.1:n.316-1G>C | ||
| ENST00000476226.5:n.324-1G>C | ||
| ENST00000476828.1:n.231G>C | ||
| ENST00000478594.5:n.253-1G>C | ||
| ENST00000480957.5:n.267-1G>C | ||
| ENST00000485108.5:n.253-1G>C | ||
| ENST00000487589.5:n.361-1G>C | ||
| ENST00000493046.5:n.160-1G>C | ||
| ENST00000495436.5:n.349-1G>C | ||
| ENST00000538581.5:c.91-1G>C | ENSP00000443200.1:n.91-1G>C | |
| NM_000481.3:c.259-1G>C , LRG_537t1:c.259-1G>C | NP_000472.2:n.259-1G>C | |
| NM_001164710.1:c.259-1G>C | NP_001158182.1:n.259-1G>C | |
| NM_001164711.1:c.91-1G>C | NP_001158183.1:n.91-1G>C | |
| NM_001164712.1:c.259-1G>C | NP_001158184.1:n.259-1G>C | |
| NR_028435.1:n.473-1G>C | ||
| NM_000481.4:c.259-1G>C MANE Select | NP_000472.2:n.259-1G>C | |
| NM_001164710.2:c.259-1G>C | NP_001158182.1:n.259-1G>C | |
| NM_001164711.2:c.91-1G>C | NP_001158183.1:n.91-1G>C | |
| NM_001164712.2:c.259-1G>C | NP_001158184.1:n.259-1G>C | |
| NR_028435.2:n.268-1G>C |