Linked Data
ClinVar Variation Id:
6085
dbSNP Id:
rs111033171
ExAC:
9:111662096 A / G
gnomAD v2:
9-111662096-A-G
gnomAD v3:
9-108899816-A-G
gnomAD v4:
9-108899816-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108899816A>G , CM000671.2:g.108899816A>G | GRCh38 |
| NC_000009.11:g.111662096A>G , CM000671.1:g.111662096A>G | GRCh37 |
| NC_000009.10:g.110701917A>G | NCBI36 |
| NG_008788.1:g.39513T>C , LRG_251:g.39513T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374647.10:c.2204+6T>C MANE Select | ENSP00000363779.5:n.2204+6T>C | |
| ENST00000495759.6:c.*814+6T>C | ENSP00000433514.2:n.*814+6T>C | |
| ENST00000674535.1:c.2204+6T>C | ENSP00000502142.1:n.2204+6T>C | |
| ENST00000674704.1:n.4011+6T>C | ||
| ENST00000674836.1:n.2509+6T>C | ||
| ENST00000674890.1:c.2204+6T>C | ENSP00000501870.1:n.2204+6T>C | |
| ENST00000674938.1:c.1862+6T>C | ENSP00000502427.1:n.1862+6T>C | |
| ENST00000674948.1:c.1862+6T>C | ENSP00000501602.1:n.1862+6T>C | |
| ENST00000675052.1:c.2204+6T>C | ENSP00000502664.1:n.2204+6T>C | |
| ENST00000675078.1:c.2204+6T>C | ENSP00000501549.1:n.2204+6T>C | |
| ENST00000675215.1:c.*1428+6T>C | ENSP00000502558.1:n.*1428+6T>C | |
| ENST00000675233.1:n.4031+6T>C | ||
| ENST00000675321.1:c.2204+6T>C | ENSP00000502751.1:n.2204+6T>C | |
| ENST00000675325.1:n.4000+6T>C | ||
| ENST00000675335.1:c.2235+6T>C | ENSP00000502182.1:n.2235+6T>C | |
| ENST00000675400.1:n.3877+6T>C | ||
| ENST00000675406.1:c.2204+6T>C | ENSP00000501893.1:n.2204+6T>C | |
| ENST00000675458.1:c.2297+6T>C | ENSP00000501754.1:n.2297+6T>C | |
| ENST00000675507.1:n.4000+6T>C | ||
| ENST00000675535.1:c.2204+6T>C | ENSP00000501667.1:n.2204+6T>C | |
| ENST00000675566.1:n.4000+6T>C | ||
| ENST00000675602.1:n.5252+6T>C | ||
| ENST00000675647.1:n.2509+6T>C | ||
| ENST00000675711.1:c.2204+6T>C | ENSP00000502485.1:n.2204+6T>C | |
| ENST00000675727.1:c.2204+6T>C | ENSP00000501722.1:n.2204+6T>C | |
| ENST00000675748.1:n.3838+6T>C | ||
| ENST00000675765.1:c.2204+6T>C | ENSP00000502640.1:n.2204+6T>C | |
| ENST00000675825.1:c.2204+6T>C | ENSP00000502632.1:n.2204+6T>C | |
| ENST00000675877.1:n.2509+6T>C | ||
| ENST00000675893.1:c.*3273+6T>C | ENSP00000502001.1:n.*3273+6T>C | |
| ENST00000675943.1:n.5819+6T>C | ||
| ENST00000675979.1:c.*1447+6T>C | ENSP00000502208.1:n.*1447+6T>C | |
| ENST00000676044.1:c.2204+6T>C | ENSP00000502378.1:n.2204+6T>C | |
| ENST00000676086.1:n.3989+6T>C | ||
| ENST00000676121.1:n.4032+6T>C | ||
| ENST00000676237.1:c.2105+6T>C | ENSP00000501828.1:n.2105+6T>C | |
| ENST00000676416.1:c.1862+6T>C | ENSP00000501660.1:n.1862+6T>C | |
| ENST00000676424.1:n.4000+6T>C | ||
| ENST00000676429.1:n.6673+6T>C | ||
| ENST00000374647.9:c.2204+6T>C | ENSP00000363779.5:n.2204+6T>C | |
| ENST00000537196.1:c.1157+6T>C | ENSP00000439367.1:n.1157+6T>C | |
| NM_003640.3:c.2204+6T>C , LRG_251t1:c.2204+6T>C | NP_003631.2:n.2204+6T>C | |
| XM_005252285.2:c.1862+6T>C | XP_005252342.1:n.1862+6T>C | |
| XM_011519136.1:c.2204+6T>C | XP_011517438.1:n.2204+6T>C | |
| XM_011519137.1:c.1862+6T>C | XP_011517439.1:n.1862+6T>C | |
| XR_929859.1:n.2520+6T>C | ||
| NM_001318360.1:c.1862+6T>C | NP_001305289.1:n.1862+6T>C | |
| NM_001330749.1:c.1157+6T>C | NP_001317678.1:n.1157+6T>C | |
| NM_003640.4:c.2204+6T>C | NP_003631.2:n.2204+6T>C | |
| XM_011519136.2:c.2204+6T>C | XP_011517438.1:n.2204+6T>C | |
| XR_929859.3:n.2531+6T>C | ||
| NM_003640.5:c.2204+6T>C MANE Select | NP_003631.2:n.2204+6T>C | |
| NM_001318360.2:c.1862+6T>C | NP_001305289.1:n.1862+6T>C | |
| NM_001330749.2:c.1157+6T>C | NP_001317678.1:n.1157+6T>C |