Linked Data
dbSNP Id:
rs779931713
ExAC:
10:30602871 A / ATTT
MyVariant Identifiers:
chr10:g.30602871_30602872insTTT (hg19)
chr10:g.30313942_30313943insTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313942_30313943insTTT , CM000672.2:g.30313942_30313943insTTT | GRCh38 |
| NC_000010.10:g.30602871_30602872insTTT , CM000672.1:g.30602871_30602872insTTT | GRCh37 |
| NC_000010.9:g.30642877_30642878insTTT | NCBI36 |
| NG_028096.1:g.40396_40397insAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1415_1416insAAA MANE Select | ENSP00000263063.3:p.Ser472_Pro473insAsn | |
| ENST00000263063.8:c.1415_1416insAAA | ENSP00000263063.3:p.Ser472_Pro473insAsn | |
| ENST00000488290.5:n.3170_3171insAAA | ||
| NM_018109.3:c.1415_1416insAAA | NP_060579.3:p.Ser472_Pro473insAsn | |
| NM_018109.4:c.1415_1416insAAA MANE Select | NP_060579.3:p.Ser472_Pro473insAsn |