Linked Data
ClinVar Variation Id:
1611734
ClinVar RCV Id:
RCV002148215
dbSNP Id:
rs1963649648
gnomAD v3:
15-84840515-T-C
gnomAD v4:
15-84840515-T-C
MyVariant Identifiers:
chr15:g.85383746T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840515T>C , CM000677.2:g.84840515T>C | GRCh38 |
| NC_000015.9:g.85383746T>C , CM000677.1:g.85383746T>C | GRCh37 |
| NC_000015.8:g.83184750T>C | NCBI36 |
| NG_054748.1:g.28885T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1236T>C MANE Select | ENSP00000258888.6:p.Tyr412= | |
| ENST00000258888.5:c.1842T>C | ENSP00000258888.5:p.Tyr614= | |
| NM_020778.4:c.1842T>C | NP_065829.3:p.Tyr614= | |
| NM_020778.5:c.1236T>C MANE Select | NP_065829.4:p.Tyr412= |