Linked Data
dbSNP Id:
rs1167676530
gnomAD v2:
22-19929030-A-C
gnomAD v3:
22-19941507-A-C
gnomAD v4:
22-19941507-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19941507A>C , CM000684.2:g.19941507A>C | GRCh38 |
| NC_000022.10:g.19929030A>C , CM000684.1:g.19929030A>C | GRCh37 |
| NC_000022.9:g.18309030A>C | NCBI36 |
| NG_011526.1:g.4768A>C | |
| NG_011835.1:g.5330T>G , LRG_417:g.5330T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.103+194T>G (TXNRD2) MANE Select | ENSP00000383365.1:n.103+194T>G | |
| ENST00000676678.1:c.-160A>C (COMT) | ENSP00000503719.1:n.-160A>C | |
| ENST00000334363.14:c.103+194T>G (TXNRD2) | ENSP00000334451.9:n.103+194T>G | |
| ENST00000400519.6:c.103+194T>G (TXNRD2) | ENSP00000383363.1:n.103+194T>G | |
| ENST00000400521.6:c.103+194T>G (TXNRD2) | ENSP00000383365.1:n.103+194T>G | |
| ENST00000400525.6:c.103+194T>G (TXNRD2) | ENSP00000383369.3:n.103+194T>G | |
| ENST00000474308.5:c.103+194T>G (TXNRD2) | ENSP00000485665.1:n.103+194T>G | |
| ENST00000496729.2:n.108+194T>G (TXNRD2) | ||
| NM_001282512.1:c.103+194T>G (TXNRD2) | NP_001269441.1:n.103+194T>G | |
| NM_006440.4:c.103+194T>G (TXNRD2) | NP_006431.2:n.103+194T>G | |
| NM_001282512.2:c.103+194T>G (TXNRD2) | NP_001269441.1:n.103+194T>G | |
| NM_001352300.1:c.103+194T>G (TXNRD2) | NP_001339229.1:n.103+194T>G | |
| NR_147957.1:n.292+194T>G (TXNRD2) | ||
| NM_006440.5:c.103+194T>G (TXNRD2) MANE Select | NP_006431.2:n.103+194T>G | |
| NM_001282512.3:c.103+194T>G (TXNRD2) | NP_001269441.1:n.103+194T>G | |
| NM_001352300.2:c.103+194T>G (TXNRD2) | NP_001339229.1:n.103+194T>G | |
| NR_147957.2:n.118+194T>G (TXNRD2) |