Linked Data
ClinVar Variation Id:
515720
dbSNP Id:
rs531105331
ExAC:
15:48755449 G / A
gnomAD v2:
15-48755449-G-A
gnomAD v3:
15-48463252-G-A
gnomAD v4:
15-48463252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48463252G>A , CM000677.2:g.48463252G>A | GRCh38 |
| NC_000015.9:g.48755449G>A , CM000677.1:g.48755449G>A | GRCh37 |
| NC_000015.8:g.46542741G>A | NCBI36 |
| NG_008805.2:g.187537C>T , LRG_778:g.187537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5066-12C>T | ENSP00000453958.2:n.5066-12C>T | |
| ENST00000674301.2:c.5066-12C>T | ENSP00000501333.2:n.5066-12C>T | |
| ENST00000684448.1:n.3740-12C>T | ||
| ENST00000316623.10:c.5066-12C>T MANE Select | ENSP00000325527.5:n.5066-12C>T | |
| ENST00000674301.1:c.65-12C>T | ENSP00000501333.1:n.65-12C>T | |
| ENST00000316623.9:c.5066-12C>T | ENSP00000325527.5:n.5066-12C>T | |
| ENST00000537463.6:c.*829-12C>T | ENSP00000440294.2:n.*829-12C>T | |
| ENST00000559133.5:c.373-12C>T | ||
| NM_000138.4:c.5066-12C>T , LRG_778t1:c.5066-12C>T | NP_000129.3:n.5066-12C>T | |
| NM_000138.5:c.5066-12C>T MANE Select | NP_000129.3:n.5066-12C>T |