Linked Data
MyVariant Identifiers:
chr16:g.2035975C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985974C>T , CM000678.2:g.1985974C>T | GRCh38 |
| NC_000016.9:g.2035975C>T , CM000678.1:g.2035975C>T | GRCh37 |
| NC_000016.8:g.1975976C>T | NCBI36 |
| NG_016288.1:g.6826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.339C>T | ENSP00000455885.1:p.Cys113= | |
| ENST00000248114.7:c.564C>T MANE Select | ENSP00000248114.6:p.Cys188= | |
| ENST00000248114.6:c.564C>T | ENSP00000248114.6:p.Cys188= | |
| ENST00000565658.1:n.721C>T | ||
| ENST00000567719.1:c.339C>T | ENSP00000455885.1:p.Cys113= | |
| ENST00000569451.1:c.*37C>T | ENSP00000456432.1:n.*37C>T | |
| NM_005262.2:c.564C>T | NP_005253.3:p.Cys188= | |
| NM_005262.3:c.564C>T MANE Select | NP_005253.3:p.Cys188= |