Linked Data
ClinVar Variation Id:
136520
dbSNP Id:
rs183176301
ExAC:
15:91354640 T / G
gnomAD v2:
15-91354640-T-G
gnomAD v3:
15-90811410-T-G
gnomAD v4:
15-90811410-T-G
PubMed:
PMID:23028338
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90811410T>G , CM000677.2:g.90811410T>G | GRCh38 |
| NC_000015.9:g.91354640T>G , CM000677.1:g.91354640T>G | GRCh37 |
| NC_000015.8:g.89155644T>G | NCBI36 |
| NG_007272.1:g.99039T>G , LRG_20:g.99039T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.4076+4T>G MANE Select | ENSP00000347232.3:n.4076+4T>G | |
| ENST00000560559.2:n.2649+4T>G | ||
| ENST00000648453.1:c.4076+4T>G | ENSP00000497646.1:n.4076+4T>G | |
| ENST00000680772.1:c.4076+4T>G | ENSP00000506117.1:n.4076+4T>G | |
| ENST00000681142.1:c.4076+4T>G | ENSP00000506682.1:n.4076+4T>G | |
| ENST00000355112.7:c.4076+4T>G | ENSP00000347232.3:n.4076+4T>G | |
| ENST00000558825.5:n.1423+4T>G | ||
| ENST00000559724.5:c.*3000+4T>G | ENSP00000453359.1:n.*3000+4T>G | |
| ENST00000560509.5:c.3683+4T>G | ENSP00000454158.1:n.3683+4T>G | |
| ENST00000560821.1:n.496+4T>G | ||
| NM_000057.3:c.4076+4T>G | NP_000048.1:n.4076+4T>G | |
| NM_001287246.1:c.4076+4T>G | NP_001274175.1:n.4076+4T>G | |
| NM_001287247.1:c.3683+4T>G | NP_001274176.1:n.3683+4T>G | |
| NM_001287248.1:c.2951+4T>G | NP_001274177.1:n.2951+4T>G | |
| XM_006720632.2:c.2114+4T>G | XP_006720695.1:n.2114+4T>G | |
| XM_011521881.1:c.2762+4T>G | XP_011520183.1:n.2762+4T>G | |
| XM_011521881.2:c.2762+4T>G | XP_011520183.1:n.2762+4T>G | |
| NM_000057.4:c.4076+4T>G MANE Select | NP_000048.1:n.4076+4T>G | |
| NM_001287246.2:c.4076+4T>G | NP_001274175.1:n.4076+4T>G | |
| NM_001287247.2:c.3683+4T>G | NP_001274176.1:n.3683+4T>G | |
| NM_001287248.2:c.2951+4T>G | NP_001274177.1:n.2951+4T>G |