Linked Data
ClinVar Variation Id:
225950
ClinVar RCV Id:
RCV000837662
dbSNP Id:
rs13306278
gnomAD v2:
22-19929027-C-T
gnomAD v3:
22-19941504-C-T
gnomAD v4:
22-19941504-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19941504C>T , CM000684.2:g.19941504C>T | GRCh38 |
| NC_000022.10:g.19929027C>T , CM000684.1:g.19929027C>T | GRCh37 |
| NC_000022.9:g.18309027C>T | NCBI36 |
| NG_011526.1:g.4765C>T | |
| NG_011835.1:g.5333G>A , LRG_417:g.5333G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.103+197G>A (TXNRD2) MANE Select | ENSP00000383365.1:n.103+197G>A | |
| ENST00000676678.1:c.-163C>T (COMT) | ENSP00000503719.1:n.-163C>T | |
| ENST00000334363.14:c.103+197G>A (TXNRD2) | ENSP00000334451.9:n.103+197G>A | |
| ENST00000400519.6:c.103+197G>A (TXNRD2) | ENSP00000383363.1:n.103+197G>A | |
| ENST00000400521.6:c.103+197G>A (TXNRD2) | ENSP00000383365.1:n.103+197G>A | |
| ENST00000400525.6:c.103+197G>A (TXNRD2) | ENSP00000383369.3:n.103+197G>A | |
| ENST00000474308.5:c.103+197G>A (TXNRD2) | ENSP00000485665.1:n.103+197G>A | |
| ENST00000496729.2:n.108+197G>A (TXNRD2) | ||
| NM_001282512.1:c.103+197G>A (TXNRD2) | NP_001269441.1:n.103+197G>A | |
| NM_006440.4:c.103+197G>A (TXNRD2) | NP_006431.2:n.103+197G>A | |
| NM_001282512.2:c.103+197G>A (TXNRD2) | NP_001269441.1:n.103+197G>A | |
| NM_001352300.1:c.103+197G>A (TXNRD2) | NP_001339229.1:n.103+197G>A | |
| NR_147957.1:n.292+197G>A (TXNRD2) | ||
| NM_006440.5:c.103+197G>A (TXNRD2) MANE Select | NP_006431.2:n.103+197G>A | |
| NM_001282512.3:c.103+197G>A (TXNRD2) | NP_001269441.1:n.103+197G>A | |
| NM_001352300.2:c.103+197G>A (TXNRD2) | NP_001339229.1:n.103+197G>A | |
| NR_147957.2:n.118+197G>A (TXNRD2) |