Linked Data
dbSNP Id:
rs2137805147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045970_48045971insT , CM000675.2:g.48045970_48045971insT | GRCh38 |
| NC_000013.10:g.48620106_48620107insT , CM000675.1:g.48620106_48620107insT | GRCh37 |
| NC_000013.9:g.47518107_47518108insT | NCBI36 |
| NG_047021.1:g.13404_13405insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*171_*172insT MANE Select | ENSP00000258662.1:n.*171_*172insT | |
| ENST00000258662.2:c.*171_*172insT | ENSP00000258662.1:n.*171_*172insT | |
| NM_018283.2:c.*171_*172insT | NP_060753.1:n.*171_*172insT | |
| NM_018283.3:c.*171_*172insT | NP_060753.1:n.*171_*172insT | |
| NR_136687.1:n.718+128_718+129insT | ||
| NR_136688.1:n.675+171_675+172insT | ||
| NM_018283.4:c.*171_*172insT MANE Select | NP_060753.1:n.*171_*172insT | |
| NR_136687.2:n.559+128_559+129insT | ||
| NR_136688.2:n.516+171_516+172insT |