Linked Data
ClinVar Variation Id:
426842
ClinVar RCV Id:
RCV000490149
dbSNP Id:
rs1085307828
gnomAD v2:
2-114002115-C-G
gnomAD v3:
2-113244538-C-G
gnomAD v4:
2-113244538-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113244538C>G , CM000664.2:g.113244538C>G | GRCh38 |
| NC_000002.11:g.114002115C>G , CM000664.1:g.114002115C>G | GRCh37 |
| NC_000002.10:g.113718585C>G | NCBI36 |
| NG_012384.1:g.39384G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468980.4:c.278G>C (PAX8) | ENSP00000451240.2:p.Gly93Ala | |
| ENST00000429538.8:c.278G>C (PAX8) MANE Select | ENSP00000395498.3:p.Gly93Ala | |
| ENST00000681162.1:c.278G>C (PAX8) | ENSP00000505425.1:p.Gly93Ala | |
| ENST00000263334.9:c.278G>C (PAX8) | ENSP00000263334.6:p.Gly93Ala | |
| ENST00000263335.11:c.278G>C (PAX8) | ENSP00000263335.7:p.Gly93Ala | |
| ENST00000348715.9:c.278G>C (PAX8) | ENSP00000314750.5:p.Gly93Ala | |
| ENST00000397647.7:c.278G>C (PAX8) | ENSP00000380768.3:p.Gly93Ala | |
| ENST00000429538.7:c.278G>C (PAX8) | ENSP00000395498.3:p.Gly93Ala | |
| ENST00000467778.5:n.442G>C (PAX8) | ||
| ENST00000554830.2:c.-40-1760G>C (PAX8) | ENSP00000451213.2:n.-40-1760G>C | |
| NM_003466.3:c.278G>C (PAX8) | NP_003457.1:p.Gly93Ala | |
| NM_013952.3:c.278G>C (PAX8) | NP_039246.1:p.Gly93Ala | |
| NM_013953.3:c.278G>C (PAX8) | NP_039247.1:p.Gly93Ala | |
| NM_013992.3:c.278G>C (PAX8) | NP_054698.1:p.Gly93Ala | |
| NR_015377.2:n.355-6229C>G (PAX8-AS1) | ||
| XM_011511790.1:c.449G>C (PAX8) | XP_011510092.1:p.Gly150Ala | |
| XM_011511791.1:c.449G>C (PAX8) | XP_011510093.1:p.Gly150Ala | |
| XM_011511792.1:c.449G>C (PAX8) | XP_011510094.1:p.Gly150Ala | |
| XM_011511793.1:c.449G>C (PAX8) | XP_011510095.1:p.Gly150Ala | |
| XM_011511794.1:c.278G>C (PAX8) | XP_011510096.1:p.Gly93Ala | |
| XR_923021.1:n.476G>C (PAX8) | ||
| NM_003466.4:c.278G>C (PAX8) MANE Select | NP_003457.1:p.Gly93Ala | |
| NM_013952.4:c.278G>C (PAX8) | NP_039246.1:p.Gly93Ala | |
| NM_013953.4:c.278G>C (PAX8) | NP_039247.1:p.Gly93Ala | |
| NM_013992.4:c.278G>C (PAX8) | NP_054698.1:p.Gly93Ala |