Linked Data
ClinVar Variation Id:
13785
ClinVar RCV Id:
RCV000014795
dbSNP Id:
rs104893658
PubMed:
PMID:9590296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113246760A>C , CM000664.2:g.113246760A>C | GRCh38 |
| NC_000002.11:g.114004337A>C , CM000664.1:g.114004337A>C | GRCh37 |
| NC_000002.10:g.113720807A>C | NCBI36 |
| NG_012384.1:g.37162T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000468980.4:c.185T>G (PAX8) | ENSP00000451240.2:p.Leu62Arg | |
| ENST00000429538.8:c.185T>G (PAX8) MANE Select | ENSP00000395498.3:p.Leu62Arg | |
| ENST00000681162.1:c.185T>G (PAX8) | ENSP00000505425.1:p.Leu62Arg | |
| ENST00000263334.9:c.185T>G (PAX8) | ENSP00000263334.6:p.Leu62Arg | |
| ENST00000263335.11:c.185T>G (PAX8) | ENSP00000263335.7:p.Leu62Arg | |
| ENST00000348715.9:c.185T>G (PAX8) | ENSP00000314750.5:p.Leu62Arg | |
| ENST00000397647.7:c.185T>G (PAX8) | ENSP00000380768.3:p.Leu62Arg | |
| ENST00000429538.7:c.185T>G (PAX8) | ENSP00000395498.3:p.Leu62Arg | |
| ENST00000467778.5:n.349T>G (PAX8) | ||
| ENST00000554830.2:c.-40-3982T>G (PAX8) | ENSP00000451213.2:n.-40-3982T>G | |
| NM_003466.3:c.185T>G (PAX8) | NP_003457.1:p.Leu62Arg | |
| NM_013952.3:c.185T>G (PAX8) | NP_039246.1:p.Leu62Arg | |
| NM_013953.3:c.185T>G (PAX8) | NP_039247.1:p.Leu62Arg | |
| NM_013992.3:c.185T>G (PAX8) | NP_054698.1:p.Leu62Arg | |
| NR_015377.2:n.355-4007A>C (PAX8-AS1) | ||
| XM_011511790.1:c.353T>G (PAX8) | XP_011510092.1:p.Leu118Arg | |
| XM_011511791.1:c.353T>G (PAX8) | XP_011510093.1:p.Leu118Arg | |
| XM_011511792.1:c.353T>G (PAX8) | XP_011510094.1:p.Leu118Arg | |
| XM_011511793.1:c.353T>G (PAX8) | XP_011510095.1:p.Leu118Arg | |
| XM_011511794.1:c.185T>G (PAX8) | XP_011510096.1:p.Leu62Arg | |
| XR_923021.1:n.380T>G (PAX8) | ||
| NM_003466.4:c.185T>G (PAX8) MANE Select | NP_003457.1:p.Leu62Arg | |
| NM_013952.4:c.185T>G (PAX8) | NP_039246.1:p.Leu62Arg | |
| NM_013953.4:c.185T>G (PAX8) | NP_039247.1:p.Leu62Arg | |
| NM_013992.4:c.185T>G (PAX8) | NP_054698.1:p.Leu62Arg |