Linked Data
ClinVar Variation Id:
2591105
ClinVar RCV Id:
RCV004334905
dbSNP Id:
rs200953650
ExAC:
21:18981435 A / C
gnomAD v2:
21-18981435-A-C
gnomAD v3:
21-17609117-A-C
gnomAD v4:
21-17609117-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.17609117A>C , CM000683.2:g.17609117A>C | GRCh38 |
| NC_000021.8:g.18981435A>C , CM000683.1:g.18981435A>C | GRCh37 |
| NC_000021.7:g.17903306A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348354.7:c.28T>G (BTG3) MANE Select | ENSP00000284879.8:p.Phe10Val | |
| ENST00000339775.10:c.28T>G (BTG3) | ENSP00000344609.6:p.Phe10Val | |
| ENST00000348354.6:c.28T>G (BTG3) | ENSP00000284879.7:p.Phe10Val | |
| ENST00000457956.1:c.28T>G (BTG3) | ENSP00000413799.1:p.Phe10Val | |
| ENST00000464058.1:n.189T>G (BTG3) | ||
| NM_001130914.1:c.28T>G (BTG3) | NP_001124386.1:p.Phe10Val | |
| NM_006806.4:c.28T>G (BTG3) | NP_006797.3:p.Phe10Val | |
| XM_011529441.1:c.58T>G (BTG3) | XP_011527743.1:p.Phe20Val | |
| XM_011529475.1:c.1018-17776A>C (CXADR) | XP_011527777.1:n.1018-17776A>C | |
| XM_011529476.1:c.1018-24032A>C (CXADR) | XP_011527778.1:n.1018-24032A>C | |
| XM_011529478.1:c.756-24032A>C (CXADR) | XP_011527780.1:n.756-24032A>C | |
| XM_011529479.1:c.756-17776A>C (CXADR) | XP_011527781.1:n.756-17776A>C | |
| XM_011529476.2:c.1018-24032A>C (CXADR) | XP_011527778.1:n.1018-24032A>C | |
| XM_011529478.2:c.756-24032A>C (CXADR) | XP_011527780.1:n.756-24032A>C | |
| XM_017028265.1:c.28T>G (BTG3) | XP_016883754.1:p.Phe10Val | |
| XM_017028266.1:c.28T>G (BTG3) | XP_016883755.1:p.Phe10Val | |
| XM_024452051.1:c.58T>G (BTG3) | XP_024307819.1:p.Phe20Val | |
| XM_024452052.1:c.28T>G (BTG3) | XP_024307820.1:p.Phe10Val | |
| XR_001754814.1:n.1132-17776A>C (CXADR) | ||
| NM_001130914.2:c.28T>G (BTG3) | NP_001124386.1:p.Phe10Val | |
| NM_006806.5:c.28T>G (BTG3) MANE Select | NP_006797.3:p.Phe10Val |