Linked Data
ClinVar Variation Id:
304291
ClinVar RCV Id:
RCV000264095
RCV000301374
RCV000304821
RCV000335218
RCV000361151
RCV000391974
RCV000402987
dbSNP Id:
rs180780893
gnomAD v2:
11-31806786-C-G
gnomAD v3:
11-31785238-C-G
gnomAD v4:
11-31785238-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.31785238C>G , CM000673.2:g.31785238C>G | GRCh38 |
| NC_000011.9:g.31806786C>G , CM000673.1:g.31806786C>G | GRCh37 |
| NC_000011.8:g.31763362C>G | NCBI36 |
| NG_008679.1:g.37724G>C , LRG_720:g.37724G>C | |
| NG_034086.1:g.280510C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419022.6:c.*4696G>C (PAX6) | ENSP00000404100.1:n.*4696G>C | |
| ENST00000606377.7:c.*4696G>C (PAX6) | ENSP00000480026.1:n.*4696G>C | |
| ENST00000638914.3:c.*4696G>C (PAX6) | ENSP00000492315.2:n.*4696G>C | |
| ENST00000639386.2:c.*4696G>C (PAX6) | ENSP00000492658.1:n.*4696G>C | |
| ENST00000640961.2:c.*1714C>G (ELP4) MANE Select | ENSP00000492152.1:n.*1714C>G | |
| ENST00000643871.1:c.*4696G>C (PAX6) | ENSP00000495109.1:n.*4696G>C | |
| ENST00000419022.5:c.*4696G>C (PAX6) | ENSP00000404100.1:n.*4696G>C | |
| ENST00000606377.5:c.*4696G>C (PAX6) | ENSP00000480026.1:n.*4696G>C | |
| NM_000280.4:c.*4696G>C (PAX6) | NP_000271.1:n.*4696G>C | |
| NM_001127612.1:c.*4696G>C (PAX6) | NP_001121084.1:n.*4696G>C | |
| NM_001258462.1:c.*4696G>C (PAX6) | NP_001245391.1:n.*4696G>C | |
| NM_001258463.1:c.*4696G>C (PAX6) | NP_001245392.1:n.*4696G>C | |
| NM_001258464.1:c.*4696G>C (PAX6) | NP_001245393.1:n.*4696G>C | |
| NM_001258465.1:c.*4696G>C (PAX6) | NP_001245394.1:n.*4696G>C | |
| NM_001310158.1:c.*4696G>C (PAX6) | NP_001297087.1:n.*4696G>C | |
| NM_001310160.1:c.*4696G>C (PAX6) | NP_001297089.1:n.*4696G>C | |
| NM_001310161.1:c.*4696G>C (PAX6) | NP_001297090.1:n.*4696G>C | |
| NM_001604.5:c.*4696G>C (PAX6) | NP_001595.2:n.*4696G>C | |
| XM_005252865.2:c.*1714C>G (ELP4) | XP_005252922.1:n.*1714C>G | |
| NM_019040.5:c.*1714C>G (ELP4) MANE Select | NP_061913.3:n.*1714C>G | |
| NM_001127612.2:c.*4696G>C (PAX6) | NP_001121084.1:n.*4696G>C | |
| NM_001258462.2:c.*4696G>C (PAX6) | NP_001245391.1:n.*4696G>C | |
| NM_001258465.2:c.*4696G>C (PAX6) | NP_001245394.1:n.*4696G>C | |
| NM_001288725.2:c.*1700C>G (ELP4) | NP_001275654.1:n.*1700C>G | |
| NM_001288726.2:c.*1809C>G (ELP4) | NP_001275655.1:n.*1809C>G | |
| NM_001310161.2:c.*4696G>C (PAX6) | NP_001297090.1:n.*4696G>C | |
| NM_001368887.1:c.*4696G>C (PAX6) | NP_001355816.1:n.*4696G>C | |
| NM_001368888.1:c.*4696G>C (PAX6) | NP_001355817.1:n.*4696G>C | |
| NM_001368889.1:c.*4696G>C (PAX6) | NP_001355818.1:n.*4696G>C | |
| NM_001368890.1:c.*4696G>C (PAX6) | NP_001355819.1:n.*4696G>C | |
| NM_001368891.1:c.*4696G>C (PAX6) | NP_001355820.1:n.*4696G>C | |
| NM_001368892.1:c.*4696G>C (PAX6) | NP_001355821.1:n.*4696G>C | |
| NM_001368893.1:c.*4696G>C (PAX6) | NP_001355822.1:n.*4696G>C | |
| NM_001368894.1:c.*4696G>C (PAX6) | NP_001355823.1:n.*4696G>C | |
| NM_001368899.1:c.*4696G>C (PAX6) | NP_001355828.1:n.*4696G>C | |
| NM_001368900.1:c.*4696G>C (PAX6) | NP_001355829.1:n.*4696G>C | |
| NM_001368901.1:c.*4696G>C (PAX6) | NP_001355830.1:n.*4696G>C | |
| NM_001368902.1:c.*4696G>C (PAX6) | NP_001355831.1:n.*4696G>C | |
| NM_001368903.1:c.*4696G>C (PAX6) | NP_001355832.1:n.*4696G>C | |
| NM_001368904.1:c.*4696G>C (PAX6) | NP_001355833.1:n.*4696G>C | |
| NM_001368905.1:c.*4696G>C (PAX6) | NP_001355834.1:n.*4696G>C | |
| NM_001368906.1:c.*4696G>C (PAX6) | NP_001355835.1:n.*4696G>C | |
| NM_001368907.1:c.*4696G>C (PAX6) | NP_001355836.1:n.*4696G>C | |
| NM_001368908.1:c.*4696G>C (PAX6) | NP_001355837.1:n.*4696G>C | |
| NM_001368909.1:c.*4696G>C (PAX6) | NP_001355838.1:n.*4696G>C | |
| NM_001368910.1:c.*4696G>C (PAX6) | NP_001355839.1:n.*4696G>C | |
| NM_001368911.1:c.*4392G>C (PAX6) | NP_001355840.1:n.*4392G>C | |
| NM_001368912.1:c.*4392G>C (PAX6) | NP_001355841.1:n.*4392G>C | |
| NM_001368913.1:c.*4392G>C (PAX6) | NP_001355842.1:n.*4392G>C | |
| NM_001368914.1:c.*4392G>C (PAX6) | NP_001355843.1:n.*4392G>C | |
| NM_001368915.1:c.*4392G>C (PAX6) | NP_001355844.1:n.*4392G>C | |
| NM_001368916.1:c.*4392G>C (PAX6) | NP_001355845.1:n.*4392G>C | |
| NM_001368917.1:c.*4392G>C (PAX6) | NP_001355846.1:n.*4392G>C | |
| NM_001368918.1:c.*4696G>C (PAX6) | NP_001355847.1:n.*4696G>C | |
| NM_001368919.1:c.*4696G>C (PAX6) | NP_001355848.1:n.*4696G>C | |
| NM_001368920.1:c.*4696G>C (PAX6) | NP_001355849.1:n.*4696G>C | |
| NM_001368921.1:c.*4392G>C (PAX6) | NP_001355850.1:n.*4392G>C | |
| NM_001368922.1:c.*4696G>C (PAX6) | NP_001355851.1:n.*4696G>C | |
| NM_001368923.1:c.*4696G>C (PAX6) | NP_001355852.1:n.*4696G>C | |
| NM_001368924.1:c.*4696G>C (PAX6) | NP_001355853.1:n.*4696G>C | |
| NM_001368925.1:c.*4696G>C (PAX6) | NP_001355854.1:n.*4696G>C | |
| NM_001368926.1:c.*4696G>C (PAX6) | NP_001355855.1:n.*4696G>C | |
| NM_001368927.1:c.*4696G>C (PAX6) | NP_001355856.1:n.*4696G>C | |
| NM_001368928.1:c.*4696G>C (PAX6) | NP_001355857.1:n.*4696G>C | |
| NM_001368929.1:c.*4392G>C (PAX6) | NP_001355858.1:n.*4392G>C | |
| NM_001368930.1:c.*4696G>C (PAX6) | NP_001355859.1:n.*4696G>C | |
| NR_160916.1:n.6195G>C (PAX6) | ||
| NR_160917.1:n.6351G>C (PAX6) |