Linked Data
ClinVar Variation Id:
220019
dbSNP Id:
rs148969222
ExAC:
15:91346951 G / T
gnomAD v2:
15-91346951-G-T
gnomAD v3:
15-90803721-G-T
gnomAD v4:
15-90803721-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90803721G>T , CM000677.2:g.90803721G>T | GRCh38 |
| NC_000015.9:g.91346951G>T , CM000677.1:g.91346951G>T | GRCh37 |
| NC_000015.8:g.89147955G>T | NCBI36 |
| NG_007272.1:g.91350G>T , LRG_20:g.91350G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3558+1G>T MANE Select | ENSP00000347232.3:n.3558+1G>T | |
| ENST00000560559.2:n.2131+1G>T | ||
| ENST00000648453.1:c.3558+1G>T | ENSP00000497646.1:n.3558+1G>T | |
| ENST00000680772.1:c.3558+1G>T | ENSP00000506117.1:n.3558+1G>T | |
| ENST00000681142.1:c.3558+1G>T | ENSP00000506682.1:n.3558+1G>T | |
| ENST00000355112.7:c.3558+1G>T | ENSP00000347232.3:n.3558+1G>T | |
| ENST00000558825.5:n.905+1G>T | ||
| ENST00000559724.5:c.*2482+1G>T | ENSP00000453359.1:n.*2482+1G>T | |
| ENST00000560136.5:n.1584+1G>T | ||
| ENST00000560509.5:c.3358+5384G>T | ENSP00000454158.1:n.3358+5384G>T | |
| NM_000057.3:c.3558+1G>T | NP_000048.1:n.3558+1G>T | |
| NM_001287246.1:c.3558+1G>T | NP_001274175.1:n.3558+1G>T | |
| NM_001287247.1:c.3358+5384G>T | NP_001274176.1:n.3358+5384G>T | |
| NM_001287248.1:c.2433+1G>T | NP_001274177.1:n.2433+1G>T | |
| XM_006720632.2:c.1596+1G>T | XP_006720695.1:n.1596+1G>T | |
| XM_011521881.1:c.2244+1G>T | XP_011520183.1:n.2244+1G>T | |
| XM_011521881.2:c.2244+1G>T | XP_011520183.1:n.2244+1G>T | |
| NM_000057.4:c.3558+1G>T MANE Select | NP_000048.1:n.3558+1G>T | |
| NM_001287246.2:c.3558+1G>T | NP_001274175.1:n.3558+1G>T | |
| NM_001287247.2:c.3358+5384G>T | NP_001274176.1:n.3358+5384G>T | |
| NM_001287248.2:c.2433+1G>T | NP_001274177.1:n.2433+1G>T |