Linked Data
ClinVar Variation Id:
1349322
ClinVar RCV Id:
RCV002046887
dbSNP Id:
rs765187060
gnomAD v4:
15-84840505-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840505A>T , CM000677.2:g.84840505A>T | GRCh38 |
| NC_000015.9:g.85383736A>T , CM000677.1:g.85383736A>T | GRCh37 |
| NC_000015.8:g.83184740A>T | NCBI36 |
| NG_054748.1:g.28875A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1226A>T MANE Select | ENSP00000258888.6:p.Gln409Leu | |
| ENST00000258888.5:c.1832A>T | ENSP00000258888.5:p.Gln611Leu | |
| NM_020778.4:c.1832A>T | NP_065829.3:p.Gln611Leu | |
| NM_020778.5:c.1226A>T MANE Select | NP_065829.4:p.Gln409Leu |