Linked Data
ClinVar Variation Id:
1487057
ClinVar RCV Id:
RCV002006182
dbSNP Id:
rs754539409
ExAC:
15:85383764 G / A
gnomAD v2:
15-85383764-G-A
gnomAD v4:
15-84840533-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840533G>A , CM000677.2:g.84840533G>A | GRCh38 |
| NC_000015.9:g.85383764G>A , CM000677.1:g.85383764G>A | GRCh37 |
| NC_000015.8:g.83184768G>A | NCBI36 |
| NG_054748.1:g.28903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1254G>A MANE Select | ENSP00000258888.6:p.Met418Ile | |
| ENST00000258888.5:c.1860G>A | ENSP00000258888.5:p.Met620Ile | |
| NM_020778.4:c.1860G>A | NP_065829.3:p.Met620Ile | |
| NM_020778.5:c.1254G>A MANE Select | NP_065829.4:p.Met418Ile |