Linked Data
ClinVar Variation Id:
8799
dbSNP Id:
rs137852743
gnomAD v4:
2-202467625-T-G
ERepo:
CA278075/MONDO:0015924/125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202467625T>G , CM000664.2:g.202467625T>G | GRCh38 |
| NC_000002.11:g.203332348T>G , CM000664.1:g.203332348T>G | GRCh37 |
| NC_000002.10:g.203040593T>G | NCBI36 |
| NG_009363.1:g.96299T>G , LRG_712:g.96299T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.354T>G MANE Select | ENSP00000363708.4:p.Cys118Trp | |
| ENST00000638587.1:c.285T>G | ENSP00000491062.1:p.Cys95Trp | |
| ENST00000374574.2:c.354T>G | ENSP00000363702.2:p.Cys118Trp | |
| ENST00000374580.8:c.354T>G | ENSP00000363708.4:p.Cys118Trp | |
| ENST00000479069.1:n.261T>G | ||
| NM_001204.6:c.354T>G , LRG_712t1:c.354T>G | NP_001195.2:p.Cys118Trp | |
| XM_011511687.1:c.354T>G | XP_011509989.1:p.Cys118Trp | |
| XM_011511688.1:c.354T>G | XP_011509990.1:p.Cys118Trp | |
| NM_001204.7:c.354T>G MANE Select | NP_001195.2:p.Cys118Trp |