Linked Data
ClinVar Variation Id:
2029241
ClinVar RCV Id:
RCV002863727
dbSNP Id:
rs780161708
ExAC:
15:48737562 C / T
gnomAD v2:
15-48737562-C-T
gnomAD v3:
15-48445365-C-T
gnomAD v4:
15-48445365-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445365C>T , CM000677.2:g.48445365C>T | GRCh38 |
| NC_000015.9:g.48737562C>T , CM000677.1:g.48737562C>T | GRCh37 |
| NC_000015.8:g.46524854C>T | NCBI36 |
| NG_008805.2:g.205424G>A , LRG_778:g.205424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5917+11G>A | ENSP00000453958.2:n.5917+11G>A | |
| ENST00000674301.2:c.5917+11G>A | ENSP00000501333.2:n.5917+11G>A | |
| ENST00000684448.1:n.4591+11G>A | ||
| ENST00000316623.10:c.5917+11G>A MANE Select | ENSP00000325527.5:n.5917+11G>A | |
| ENST00000674301.1:c.916+11G>A | ENSP00000501333.1:n.916+11G>A | |
| ENST00000316623.9:c.5917+11G>A | ENSP00000325527.5:n.5917+11G>A | |
| ENST00000537463.6:c.*1680+11G>A | ENSP00000440294.2:n.*1680+11G>A | |
| ENST00000559133.5:c.1224+11G>A | ||
| ENST00000560820.1:n.37+11G>A | ||
| NM_000138.4:c.5917+11G>A , LRG_778t1:c.5917+11G>A | NP_000129.3:n.5917+11G>A | |
| NM_000138.5:c.5917+11G>A MANE Select | NP_000129.3:n.5917+11G>A |