Linked Data
ClinVar Variation Id:
538059
dbSNP Id:
rs150140303
ExAC:
11:117859104 G / T
gnomAD v2:
11-117859104-G-T
gnomAD v3:
11-117988389-G-T
gnomAD v4:
11-117988389-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117988389G>T , CM000673.2:g.117988389G>T | GRCh38 |
| NC_000011.9:g.117859104G>T , CM000673.1:g.117859104G>T | GRCh37 |
| NC_000011.8:g.117364314G>T | NCBI36 |
| NG_016275.1:g.6999G>T , LRG_151:g.6999G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525467.2:n.423G>T | ||
| ENST00000696732.1:n.1924G>T | ||
| ENST00000227752.8:c.75G>T MANE Select | ENSP00000227752.4:p.Glu25Asp | |
| ENST00000529924.6:n.1653G>T | ||
| ENST00000227752.7:c.75G>T | ENSP00000227752.3:p.Glu25Asp | |
| ENST00000526544.5:c.75G>T | ENSP00000435317.1:p.Glu25Asp | |
| ENST00000529924.5:n.1653G>T | ||
| ENST00000530761.5:n.452G>T | ||
| ENST00000531365.1:n.102G>T | ||
| ENST00000533700.5:n.282G>T | ||
| ENST00000534574.5:c.*15G>T | ENSP00000436328.1:n.*15G>T | |
| NM_001558.3:c.75G>T , LRG_151t1:c.75G>T | NP_001549.2:p.Glu25Asp | |
| NR_026691.1:n.282G>T | ||
| XM_024448493.1:c.-194G>T | XP_024304261.1:n.-194G>T | |
| NM_001558.4:c.75G>T MANE Select | NP_001549.2:p.Glu25Asp | |
| NR_026691.2:n.279G>T |