Linked Data
ClinVar Variation Id:
222880
dbSNP Id:
rs775392322
ExAC:
22:19929313 G / A
gnomAD v2:
22-19929313-G-A
gnomAD v3:
22-19941790-G-A
gnomAD v4:
22-19941790-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19941790G>A , CM000684.2:g.19941790G>A | GRCh38 |
| NC_000022.10:g.19929313G>A , CM000684.1:g.19929313G>A | GRCh37 |
| NC_000022.9:g.18309313G>A | NCBI36 |
| NG_011526.1:g.5051G>A | |
| NG_011835.1:g.5047C>T , LRG_417:g.5047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.-199G>A (COMT) MANE Select | ENSP00000354511.6:n.-199G>A | |
| ENST00000400521.7:c.14C>T (TXNRD2) MANE Select | ENSP00000383365.1:p.Ala5Val | |
| ENST00000676678.1:c.-92+215G>A (COMT) | ENSP00000503719.1:n.-92+215G>A | |
| ENST00000334363.14:c.14C>T (TXNRD2) | ENSP00000334451.9:p.Ala5Val | |
| ENST00000361682.10:c.-199G>A (COMT) | ENSP00000354511.6:n.-199G>A | |
| ENST00000400519.6:c.14C>T (TXNRD2) | ENSP00000383363.1:p.Ala5Val | |
| ENST00000400521.6:c.14C>T (TXNRD2) | ENSP00000383365.1:p.Ala5Val | |
| ENST00000400525.6:c.14C>T (TXNRD2) | ENSP00000383369.3:p.Ala5Val | |
| ENST00000403184.5:c.-199G>A (COMT) | ENSP00000383966.1:n.-199G>A | |
| ENST00000403710.5:c.-493G>A (COMT) | ENSP00000385917.1:n.-493G>A | |
| ENST00000407537.5:c.-377G>A (COMT) | ENSP00000384654.2:n.-377G>A | |
| ENST00000474308.5:c.14C>T (TXNRD2) | ENSP00000485665.1:p.Ala5Val | |
| ENST00000496729.2:n.19C>T (TXNRD2) | ||
| NM_000754.3:c.-199G>A (COMT) | NP_000745.1:n.-199G>A | |
| NM_001282512.1:c.14C>T (TXNRD2) | NP_001269441.1:p.Ala5Val | |
| NM_006440.4:c.14C>T (TXNRD2) | NP_006431.2:p.Ala5Val | |
| NM_001282512.2:c.14C>T (TXNRD2) | NP_001269441.1:p.Ala5Val | |
| NM_001352300.1:c.14C>T (TXNRD2) | NP_001339229.1:p.Ala5Val | |
| NM_001362828.1:c.-493G>A (COMT) | NP_001349757.1:n.-493G>A | |
| NR_147957.1:n.203C>T (TXNRD2) | ||
| NM_006440.5:c.14C>T (TXNRD2) MANE Select | NP_006431.2:p.Ala5Val | |
| NM_000754.4:c.-199G>A (COMT) MANE Select | NP_000745.1:n.-199G>A | |
| NM_001282512.3:c.14C>T (TXNRD2) | NP_001269441.1:p.Ala5Val | |
| NM_001352300.2:c.14C>T (TXNRD2) | NP_001339229.1:p.Ala5Val | |
| NM_001362828.2:c.-493G>A (COMT) | NP_001349757.1:n.-493G>A | |
| NR_147957.2:n.29C>T (TXNRD2) |