Linked Data
MyVariant Identifiers:
chr16:g.223187T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173188T>C , CM000678.2:g.173188T>C | GRCh38 |
| NC_000016.9:g.223187T>C , CM000678.1:g.223187T>C | GRCh37 |
| NC_000016.8:g.163187T>C | NCBI36 |
| NG_000006.1:g.34051T>C | |
| NG_059186.1:g.1538T>C | |
| NG_059271.1:g.5342T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.159T>C MANE Select | ENSP00000251595.6:p.Ser53= | |
| ENST00000251595.10:c.159T>C | ENSP00000251595.6:p.Ser53= | |
| ENST00000397806.1:c.63T>C | ENSP00000380908.1:p.Ser21= | |
| ENST00000482565.1:n.295T>C | ||
| ENST00000484216.1:n.128T>C | ||
| NM_000517.4:c.159T>C | NP_000508.1:p.Ser53= | |
| NM_000517.6:c.159T>C MANE Select | NP_000508.1:p.Ser53= |