Linked Data
ClinVar Variation Id:
1138568
ClinVar RCV Id:
RCV001474940
dbSNP Id:
rs753828114
gnomAD v4:
1-40092125-T-A
MyVariant Identifiers:
chr1:g.40557797T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092125T>A , CM000663.2:g.40092125T>A | GRCh38 |
| NC_000001.10:g.40557797T>A , CM000663.1:g.40557797T>A | GRCh37 |
| NC_000001.9:g.40330384T>A | NCBI36 |
| NG_009192.1:g.10346A>T , LRG_690:g.10346A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*118A>T | ENSP00000361865.5:n.*118A>T | |
| ENST00000433473.8:c.279A>T | ENSP00000394863.4:p.Thr93= | |
| ENST00000439754.6:c.282A>T | ENSP00000403207.2:p.Thr94= | |
| ENST00000449045.7:c.125-2613A>T | ENSP00000392293.2:n.125-2613A>T | |
| ENST00000526547.2:c.562A>T | ||
| ENST00000527311.7:c.234+273A>T | ENSP00000436695.3:n.234+273A>T | |
| ENST00000530704.6:c.282A>T | ENSP00000431655.1:p.Thr94= | |
| ENST00000641083.1:c.260A>T | ||
| ENST00000641236.1:n.519A>T | ||
| ENST00000641319.1:c.282A>T | ENSP00000493128.1:p.Thr94= | |
| ENST00000641471.1:c.369A>T | ENSP00000493146.1:p.Thr123= | |
| ENST00000641548.1:c.*134A>T | ENSP00000492984.1:n.*134A>T | |
| ENST00000641691.1:c.*134A>T | ENSP00000492910.1:n.*134A>T | |
| ENST00000641924.1:c.124+4990A>T | ENSP00000493063.1:n.124+4990A>T | |
| ENST00000642050.2:c.282A>T MANE Select | ENSP00000493153.1:p.Thr94= | |
| ENST00000372779.8:c.369A>T | ENSP00000361865.4:p.Thr123= | |
| ENST00000433473.7:c.282A>T | ENSP00000394863.3:p.Thr94= | |
| ENST00000449045.6:c.125-2613A>T | ENSP00000392293.2:n.125-2613A>T | |
| ENST00000526547.1:c.132A>T | ENSP00000436481.1:p.Thr44= | |
| ENST00000527311.6:c.125-68A>T | ENSP00000436695.2:n.125-68A>T | |
| ENST00000529905.5:c.282A>T | ENSP00000432053.1:p.Thr94= | |
| ENST00000530704.5:c.282A>T | ENSP00000431655.1:p.Thr94= | |
| NM_000310.3:c.282A>T , LRG_690t1:c.282A>T | NP_000301.1:p.Thr94= | |
| NM_001142604.1:c.125-2613A>T | NP_001136076.1:n.125-2613A>T | |
| XM_005271008.1:c.282A>T | XP_005271065.1:p.Thr94= | |
| NM_001363695.1:c.282A>T | NP_001350624.1:p.Thr94= | |
| NM_000310.4:c.282A>T MANE Select | NP_000301.1:p.Thr94= | |
| NM_001142604.2:c.125-2613A>T | NP_001136076.1:n.125-2613A>T | |
| NM_001363695.2:c.282A>T | NP_001350624.1:p.Thr94= |