Linked Data
ClinVar Variation Id:
506089
dbSNP Id:
rs3825413
ExAC:
13:86369120 C / T
gnomAD v2:
13-86369120-C-T
gnomAD v3:
13-85794985-C-T
gnomAD v4:
13-85794985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.85794985C>T , CM000675.2:g.85794985C>T | GRCh38 |
| NC_000013.10:g.86369120C>T , CM000675.1:g.86369120C>T | GRCh37 |
| NC_000013.9:g.85267121C>T | NCBI36 |
| NG_041801.1:g.9364G>A | |
| NG_041801.2:g.16699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643778.1:c.1524G>A | ENSP00000496428.1:p.Leu508= | |
| ENST00000647374.2:c.1524G>A MANE Select | ENSP00000495507.1:p.Leu508= | |
| ENST00000400286.2:c.1524G>A | ENSP00000383143.2:p.Leu508= | |
| NM_032229.2:c.1524G>A | NP_115605.2:p.Leu508= | |
| NM_032229.3:c.1524G>A MANE Select | NP_115605.2:p.Leu508= |