Linked Data
dbSNP Id:
rs1570369511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535711_1535712insGC , CM000663.2:g.1535711_1535712insGC | GRCh38 |
| NC_000001.10:g.1471091_1471092insGC , CM000663.1:g.1471091_1471092insGC | GRCh37 |
| NC_000001.9:g.1460954_1460955insGC | NCBI36 |
| NG_041807.1:g.9649_9650insGC | |
| NG_053035.1:g.28569_28570insGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.250_251insGC MANE Select | ENSP00000368007.4:p.Thr84SerfsTer? | |
| ENST00000378733.8:c.250_251insGC | ENSP00000368007.4:p.Thr84SerfsTer? | |
| ENST00000425828.1:c.250_251insGC | ENSP00000400311.1:p.Thr84SerfsTer? | |
| NM_001114748.1:c.250_251insGC | NP_001108220.1:p.Thr84SerfsTer? | |
| NM_001114748.2:c.250_251insGC MANE Select | NP_001108220.1:p.Thr84SerfsTer? |