Linked Data
ClinVar Variation Id:
42290
dbSNP Id:
rs397515761
ExAC:
15:48905296 C / T
gnomAD v2:
15-48905296-C-T
gnomAD v3:
15-48613099-C-T
gnomAD v4:
15-48613099-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48613099C>T , CM000677.2:g.48613099C>T | GRCh38 |
| NC_000015.9:g.48905296C>T , CM000677.1:g.48905296C>T | GRCh37 |
| NC_000015.8:g.46692588C>T | NCBI36 |
| NG_008805.2:g.37690G>A , LRG_778:g.37690G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.165-7G>A | ENSP00000453958.2:n.165-7G>A | |
| ENST00000674301.2:c.165-7G>A | ENSP00000501333.2:n.165-7G>A | |
| ENST00000316623.10:c.165-7G>A MANE Select | ENSP00000325527.5:n.165-7G>A | |
| ENST00000316623.9:c.165-7G>A | ENSP00000325527.5:n.165-7G>A | |
| ENST00000537463.6:c.165-7G>A | ENSP00000440294.2:n.165-7G>A | |
| NM_000138.4:c.165-7G>A , LRG_778t1:c.165-7G>A | NP_000129.3:n.165-7G>A | |
| NM_000138.5:c.165-7G>A MANE Select | NP_000129.3:n.165-7G>A |