Linked Data
ClinVar Variation Id:
222618
dbSNP Id:
rs869025419
gnomAD v2:
15-48725062-C-T
gnomAD v4:
15-48432865-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48432865C>T , CM000677.2:g.48432865C>T | GRCh38 |
| NC_000015.9:g.48725062C>T , CM000677.1:g.48725062C>T | GRCh37 |
| NC_000015.8:g.46512354C>T | NCBI36 |
| NG_008805.2:g.217924G>A , LRG_778:g.217924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6739+1G>A | ENSP00000453958.2:n.6739+1G>A | |
| ENST00000674301.2:c.*190+1G>A | ENSP00000501333.2:n.*190+1G>A | |
| ENST00000682170.1:n.348+1G>A | ||
| ENST00000316623.10:c.6739+1G>A MANE Select | ENSP00000325527.5:n.6739+1G>A | |
| ENST00000674301.1:c.1843+1G>A | ENSP00000501333.1:n.1843+1G>A | |
| ENST00000316623.9:c.6739+1G>A | ENSP00000325527.5:n.6739+1G>A | |
| ENST00000537463.6:c.*2502+1G>A | ENSP00000440294.2:n.*2502+1G>A | |
| ENST00000559133.5:c.2046+1G>A | ||
| ENST00000560720.1:n.26+1G>A | ||
| NM_000138.4:c.6739+1G>A , LRG_778t1:c.6739+1G>A | NP_000129.3:n.6739+1G>A | |
| NM_000138.5:c.6739+1G>A MANE Select | NP_000129.3:n.6739+1G>A |