Linked Data
ClinVar Variation Id:
178339
dbSNP Id:
rs185220846
ExAC:
2:179325181 T / C
gnomAD v2:
2-179325181-T-C
gnomAD v3:
2-178460454-T-C
gnomAD v4:
2-178460454-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178460454T>C , CM000664.2:g.178460454T>C | GRCh38 |
| NC_000002.11:g.179325181T>C , CM000664.1:g.179325181T>C | GRCh37 |
| NC_000002.10:g.179033427T>C | NCBI36 |
| NG_012186.1:g.14019T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642192.1:c.289+8T>C | ENSP00000494225.1:n.289+8T>C | |
| ENST00000642492.1:c.289+8T>C | ENSP00000496267.1:n.289+8T>C | |
| ENST00000642762.1:c.167+34T>C | ENSP00000496028.1:n.167+34T>C | |
| ENST00000644580.2:c.766+8T>C MANE Select | ENSP00000495855.2:n.766+8T>C | |
| ENST00000645572.1:c.668-528T>C | ENSP00000494301.1:n.668-528T>C | |
| ENST00000645817.1:c.289+8T>C | ENSP00000495731.1:n.289+8T>C | |
| ENST00000647226.1:c.289+8T>C | ENSP00000496024.1:n.289+8T>C | |
| ENST00000375129.8:c.766+8T>C | ENSP00000364271.4:n.766+8T>C | |
| ENST00000409117.7:c.766+8T>C | ENSP00000386647.3:n.766+8T>C | |
| ENST00000437056.5:n.1636+8T>C | ||
| ENST00000442710.5:c.490+8T>C | ||
| NM_001042702.3:c.766+8T>C | NP_001036167.1:n.766+8T>C | |
| XM_005246627.1:c.775+8T>C | XP_005246684.1:n.775+8T>C | |
| XM_005246628.2:c.773-528T>C | XP_005246685.1:n.773-528T>C | |
| XM_005246629.2:c.757+8T>C | XP_005246686.1:n.757+8T>C | |
| XM_011511247.1:c.845+34T>C | XP_011509549.1:n.845+34T>C | |
| XM_011511248.1:c.835+8T>C | XP_011509550.1:n.835+8T>C | |
| XM_011511249.1:c.289+8T>C | XP_011509551.1:n.289+8T>C | |
| XM_011511250.1:c.289+8T>C | XP_011509552.1:n.289+8T>C | |
| XM_011511251.1:c.289+8T>C | XP_011509553.1:n.289+8T>C | |
| XR_922929.1:n.1589+34T>C | ||
| NM_001042702.4:c.766+8T>C | NP_001036167.1:n.766+8T>C | |
| NM_001353775.1:c.775+8T>C | NP_001340704.1:n.775+8T>C | |
| NM_001353776.1:c.773-528T>C | NP_001340705.1:n.773-528T>C | |
| NM_001353777.1:c.289+8T>C | NP_001340706.1:n.289+8T>C | |
| NM_001353778.1:c.289+8T>C | NP_001340707.1:n.289+8T>C | |
| XM_005246629.4:c.757+8T>C | XP_005246686.1:n.757+8T>C | |
| XM_011511247.3:c.845+34T>C | XP_011509549.1:n.845+34T>C | |
| XM_011511249.3:c.289+8T>C | XP_011509551.1:n.289+8T>C | |
| XM_017004221.2:c.871+8T>C | XP_016859710.1:n.871+8T>C | |
| XM_017004224.2:c.289+8T>C | XP_016859713.1:n.289+8T>C | |
| XM_024452927.1:c.289+8T>C | XP_024308695.1:n.289+8T>C | |
| XM_024452928.1:c.289+8T>C | XP_024308696.1:n.289+8T>C | |
| XR_001738753.2:n.2655+8T>C | ||
| XR_002959300.1:n.2578+8T>C | ||
| XR_922929.3:n.1112+34T>C | ||
| NM_001042702.5:c.766+8T>C MANE Select | NP_001036167.1:n.766+8T>C | |
| NM_001369912.1:c.766+8T>C | NP_001356841.1:n.766+8T>C | |
| NM_001353775.2:c.775+8T>C | NP_001340704.1:n.775+8T>C | |
| NM_001353776.2:c.773-528T>C | NP_001340705.1:n.773-528T>C | |
| NM_001353778.2:c.289+8T>C | NP_001340707.1:n.289+8T>C |