Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652542C>A , CM000682.2:g.10652542C>A | GRCh38 |
| NC_000020.10:g.10633190C>A , CM000682.1:g.10633190C>A | GRCh37 |
| NC_000020.9:g.10581190C>A | NCBI36 |
| NG_007496.1:g.26505G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.812G>T MANE Select | ENSP00000254958.4:p.Cys271Phe | |
| ENST00000617965.2:n.181G>T | ||
| ENST00000254958.9:c.812G>T | ENSP00000254958.4:p.Cys271Phe | |
| ENST00000423891.6:n.678G>T | ||
| ENST00000617965.1:n.181G>T | ||
| NM_000214.2:c.812G>T | NP_000205.1:p.Cys271Phe | |
| NM_000214.3:c.812G>T MANE Select | NP_000205.1:p.Cys271Phe |