Linked Data
dbSNP Id:
rs1449067287
gnomAD v2:
10-96612428-GT-G
gnomAD v3:
10-94852671-GT-G
gnomAD v4:
10-94852671-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852672del , CM000672.2:g.94852672del | GRCh38 |
| NC_000010.10:g.96612429del , CM000672.1:g.96612429del | GRCh37 |
| NC_000010.9:g.96602419del | NCBI36 |
| NG_008384.2:g.94967del | |
| NG_008384.3:g.94992del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1292-61del MANE Select | ENSP00000360372.3:n.1292-61del | |
| ENST00000645461.1:n.2203-61del | ||
| ENST00000371321.7:c.1292-61del | ENSP00000360372.3:n.1292-61del | |
| ENST00000464755.1:c.2055-61del | ENSP00000483243.1:n.2055-61del | |
| NM_000769.2:c.1292-61del | NP_000760.1:n.1292-61del | |
| NM_000769.4:c.1292-61del MANE Select | NP_000760.1:n.1292-61del |