Linked Data
ClinVar Variation Id:
519744
dbSNP Id:
rs1388794275
gnomAD v3:
15-48421640-G-A
gnomAD v4:
15-48421640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421640G>A , CM000677.2:g.48421640G>A | GRCh38 |
| NC_000015.9:g.48713837G>A , CM000677.1:g.48713837G>A | GRCh37 |
| NC_000015.8:g.46501129G>A | NCBI36 |
| NG_008805.2:g.229149C>T , LRG_778:g.229149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*425C>T | ENSP00000453958.2:n.*425C>T | |
| ENST00000674301.2:c.*1130C>T | ENSP00000501333.2:n.*1130C>T | |
| ENST00000682170.1:n.1798C>T | ||
| ENST00000682767.1:n.914C>T | ||
| ENST00000316623.10:c.7617C>T MANE Select | ENSP00000325527.5:p.Gly2539= | |
| ENST00000674301.1:c.2783C>T | ENSP00000501333.1:n.2783C>T | |
| ENST00000316623.9:c.7617C>T | ENSP00000325527.5:p.Gly2539= | |
| ENST00000559133.5:c.2986C>T | ||
| NM_000138.4:c.7617C>T , LRG_778t1:c.7617C>T | NP_000129.3:p.Gly2539= | |
| NM_000138.5:c.7617C>T MANE Select | NP_000129.3:p.Gly2539= |