Linked Data
ClinVar Variation Id:
200055
dbSNP Id:
rs794728230
gnomAD v2:
15-48760144-C-T
gnomAD v3:
15-48467947-C-T
gnomAD v4:
15-48467947-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48467947C>T , CM000677.2:g.48467947C>T | GRCh38 |
| NC_000015.9:g.48760144C>T , CM000677.1:g.48760144C>T | GRCh37 |
| NC_000015.8:g.46547436C>T | NCBI36 |
| NG_008805.2:g.182842G>A , LRG_778:g.182842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4738G>A | ENSP00000453958.2:p.Val1580Met | |
| ENST00000674301.2:c.4738G>A | ENSP00000501333.2:p.Val1580Met | |
| ENST00000684448.1:n.3412G>A | ||
| ENST00000316623.10:c.4738G>A MANE Select | ENSP00000325527.5:p.Val1580Met | |
| ENST00000316623.9:c.4738G>A | ENSP00000325527.5:p.Val1580Met | |
| ENST00000537463.6:c.*501G>A | ENSP00000440294.2:n.*501G>A | |
| ENST00000559133.5:c.45G>A | ||
| NM_000138.4:c.4738G>A , LRG_778t1:c.4738G>A | NP_000129.3:p.Val1580Met | |
| NM_000138.5:c.4738G>A MANE Select | NP_000129.3:p.Val1580Met |