Linked Data
dbSNP Id:
rs755371436
ExAC:
15:75047247 CGGTG / C
gnomAD v2:
15-75047247-CGGTG-C
gnomAD v4:
15-74754906-CGGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754907_74754910del , CM000677.2:g.74754907_74754910del | GRCh38 |
| NC_000015.9:g.75047248_75047251del , CM000677.1:g.75047248_75047251del | GRCh37 |
| NC_000015.8:g.72834301_72834304del | NCBI36 |
| NG_008431.1:g.37366_37369del | |
| NG_008431.2:g.37366_37369del | |
| NG_061543.1:g.11063_11066del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1370_1373del MANE Select | ENSP00000342007.4:p.Arg457LeufsTer30 | |
| ENST00000343932.4:c.1370_1373del | ENSP00000342007.4:p.Arg457LeufsTer30 | |
| NM_000761.4:c.1370_1373del | NP_000752.2:p.Arg457LeufsTer30 | |
| NM_000761.5:c.1370_1373del MANE Select | NP_000752.2:p.Arg457LeufsTer30 |