Linked Data
MyVariant Identifiers:
chr17:g.61683687T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63606327T>C , CM000679.2:g.63606327T>C | GRCh38 |
| NC_000017.10:g.61683687T>C , CM000679.1:g.61683687T>C | GRCh37 |
| NC_000017.9:g.59037419T>C | NCBI36 |
| NG_016979.1:g.10457T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682060.1:n.164T>C | ||
| ENST00000684587.1:c.399T>C | ENSP00000507435.1:p.Thr133= | |
| ENST00000690765.1:c.*228T>C | ENSP00000510085.1:n.*228T>C | |
| ENST00000258975.7:c.402T>C MANE Select | ENSP00000258975.6:p.Thr134= | |
| ENST00000258975.6:c.402T>C | ENSP00000258975.6:p.Thr134= | |
| ENST00000581120.1:n.604T>C | ||
| NM_016360.3:c.402T>C | NP_057444.2:p.Thr134= | |
| NM_016360.4:c.402T>C MANE Select | NP_057444.2:p.Thr134= |