Linked Data
ClinVar Variation Id:
2341
ClinVar RCV Id:
RCV000002431
dbSNP Id:
rs267606730
gnomAD v4:
15-40471418-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471418A>T , CM000677.2:g.40471418A>T | GRCh38 |
| NC_000015.9:g.40763617A>T , CM000677.1:g.40763617A>T | GRCh37 |
| NC_000015.8:g.38550909A>T | NCBI36 |
| NG_017074.1:g.5458A>T , LRG_600:g.5458A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.205A>T MANE Select | ENSP00000307297.6:p.Lys69Ter | |
| ENST00000306243.6:c.205A>T | ENSP00000307297.5:p.Lys69Ter | |
| ENST00000559991.1:c.205A>T | ENSP00000453882.1:p.Lys69Ter | |
| NM_130468.3:c.205A>T , LRG_600t1:c.205A>T | NP_569735.1:p.Lys69Ter | |
| NM_130468.4:c.205A>T MANE Select | NP_569735.1:p.Lys69Ter |