Linked Data
ClinVar Variation Id:
432854
dbSNP Id:
rs1429174414
gnomAD v2:
22-19929316-A-G
gnomAD v4:
22-19941793-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19941793A>G , CM000684.2:g.19941793A>G | GRCh38 |
| NC_000022.10:g.19929316A>G , CM000684.1:g.19929316A>G | GRCh37 |
| NC_000022.9:g.18309316A>G | NCBI36 |
| NG_011526.1:g.5054A>G | |
| NG_011835.1:g.5044T>C , LRG_417:g.5044T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.-196A>G (COMT) MANE Select | ENSP00000354511.6:n.-196A>G | |
| ENST00000400521.7:c.11T>C (TXNRD2) MANE Select | ENSP00000383365.1:p.Met4Thr | |
| ENST00000676678.1:c.-92+218A>G (COMT) | ENSP00000503719.1:n.-92+218A>G | |
| ENST00000334363.14:c.11T>C (TXNRD2) | ENSP00000334451.9:p.Met4Thr | |
| ENST00000361682.10:c.-196A>G (COMT) | ENSP00000354511.6:n.-196A>G | |
| ENST00000400519.6:c.11T>C (TXNRD2) | ENSP00000383363.1:p.Met4Thr | |
| ENST00000400521.6:c.11T>C (TXNRD2) | ENSP00000383365.1:p.Met4Thr | |
| ENST00000400525.6:c.11T>C (TXNRD2) | ENSP00000383369.3:p.Met4Thr | |
| ENST00000403184.5:c.-196A>G (COMT) | ENSP00000383966.1:n.-196A>G | |
| ENST00000403710.5:c.-490A>G (COMT) | ENSP00000385917.1:n.-490A>G | |
| ENST00000407537.5:c.-374A>G (COMT) | ENSP00000384654.2:n.-374A>G | |
| ENST00000467943.5:n.1A>G (COMT) | ||
| ENST00000474308.5:c.11T>C (TXNRD2) | ENSP00000485665.1:p.Met4Thr | |
| ENST00000496729.2:n.16T>C (TXNRD2) | ||
| NM_000754.3:c.-196A>G (COMT) | NP_000745.1:n.-196A>G | |
| NM_001282512.1:c.11T>C (TXNRD2) | NP_001269441.1:p.Met4Thr | |
| NM_006440.4:c.11T>C (TXNRD2) | NP_006431.2:p.Met4Thr | |
| XM_011529887.1:c.-196A>G (COMT) | XP_011528189.1:n.-196A>G | |
| NM_001282512.2:c.11T>C (TXNRD2) | NP_001269441.1:p.Met4Thr | |
| NM_001352300.1:c.11T>C (TXNRD2) | NP_001339229.1:p.Met4Thr | |
| NM_001362828.1:c.-490A>G (COMT) | NP_001349757.1:n.-490A>G | |
| NR_147957.1:n.200T>C (TXNRD2) | ||
| NM_006440.5:c.11T>C (TXNRD2) MANE Select | NP_006431.2:p.Met4Thr | |
| NM_000754.4:c.-196A>G (COMT) MANE Select | NP_000745.1:n.-196A>G | |
| NM_001282512.3:c.11T>C (TXNRD2) | NP_001269441.1:p.Met4Thr | |
| NM_001352300.2:c.11T>C (TXNRD2) | NP_001339229.1:p.Met4Thr | |
| NM_001362828.2:c.-490A>G (COMT) | NP_001349757.1:n.-490A>G | |
| NR_147957.2:n.26T>C (TXNRD2) |