Linked Data
ClinVar Variation Id:
42289
dbSNP Id:
rs397515760
ExAC:
15:48936798 T / C
gnomAD v2:
15-48936798-T-C
gnomAD v4:
15-48644601-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48644601T>C , CM000677.2:g.48644601T>C | GRCh38 |
| NC_000015.9:g.48936798T>C , CM000677.1:g.48936798T>C | GRCh37 |
| NC_000015.8:g.46724090T>C | NCBI36 |
| NG_008805.2:g.6188A>G , LRG_778:g.6188A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.164+5A>G | ENSP00000453958.2:n.164+5A>G | |
| ENST00000674301.2:c.164+5A>G | ENSP00000501333.2:n.164+5A>G | |
| ENST00000316623.10:c.164+5A>G MANE Select | ENSP00000325527.5:n.164+5A>G | |
| ENST00000316623.9:c.164+5A>G | ENSP00000325527.5:n.164+5A>G | |
| ENST00000537463.6:c.164+5A>G | ENSP00000440294.2:n.164+5A>G | |
| ENST00000558230.1:n.227+5A>G | ||
| ENST00000560355.1:c.*1A>G | ENSP00000453901.1:n.*1A>G | |
| NM_000138.4:c.164+5A>G , LRG_778t1:c.164+5A>G | NP_000129.3:n.164+5A>G | |
| NM_000138.5:c.164+5A>G MANE Select | NP_000129.3:n.164+5A>G |