Linked Data
ClinVar Variation Id:
388201
dbSNP Id:
rs955955089
gnomAD v2:
15-48818455-G-A
gnomAD v3:
15-48526258-G-A
gnomAD v4:
15-48526258-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48526258G>A , CM000677.2:g.48526258G>A | GRCh38 |
| NC_000015.9:g.48818455G>A , CM000677.1:g.48818455G>A | GRCh37 |
| NC_000015.8:g.46605747G>A | NCBI36 |
| NG_008805.2:g.124531C>T , LRG_778:g.124531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.863-3C>T | ENSP00000453958.2:n.863-3C>T | |
| ENST00000674301.2:c.863-3C>T | ENSP00000501333.2:n.863-3C>T | |
| ENST00000316623.10:c.863-3C>T MANE Select | ENSP00000325527.5:n.863-3C>T | |
| ENST00000316623.9:c.863-3C>T | ENSP00000325527.5:n.863-3C>T | |
| ENST00000537463.6:c.636+11453C>T | ENSP00000440294.2:n.636+11453C>T | |
| NM_000138.4:c.863-3C>T , LRG_778t1:c.863-3C>T | NP_000129.3:n.863-3C>T | |
| XR_932208.1:n.4G>A | ||
| NM_000138.5:c.863-3C>T MANE Select | NP_000129.3:n.863-3C>T |