Linked Data
ClinVar Variation Id:
495621
dbSNP Id:
rs1426894149
gnomAD v2:
15-48744896-G-T
gnomAD v3:
15-48452699-G-T
gnomAD v4:
15-48452699-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48452699G>T , CM000677.2:g.48452699G>T | GRCh38 |
| NC_000015.9:g.48744896G>T , CM000677.1:g.48744896G>T | GRCh37 |
| NC_000015.8:g.46532188G>T | NCBI36 |
| NG_008805.2:g.198090C>A , LRG_778:g.198090C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5423-15C>A | ENSP00000453958.2:n.5423-15C>A | |
| ENST00000674301.2:c.5423-15C>A | ENSP00000501333.2:n.5423-15C>A | |
| ENST00000684448.1:n.4097-15C>A | ||
| ENST00000316623.10:c.5423-15C>A MANE Select | ENSP00000325527.5:n.5423-15C>A | |
| ENST00000674301.1:c.422-15C>A | ENSP00000501333.1:n.422-15C>A | |
| ENST00000316623.9:c.5423-15C>A | ENSP00000325527.5:n.5423-15C>A | |
| ENST00000537463.6:c.*1186-15C>A | ENSP00000440294.2:n.*1186-15C>A | |
| ENST00000559133.5:c.730-15C>A | ||
| NM_000138.4:c.5423-15C>A , LRG_778t1:c.5423-15C>A | NP_000129.3:n.5423-15C>A | |
| NM_000138.5:c.5423-15C>A MANE Select | NP_000129.3:n.5423-15C>A |