Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658501T>A , CM000682.2:g.10658501T>A | GRCh38 |
| NC_000020.10:g.10639149T>A , CM000682.1:g.10639149T>A | GRCh37 |
| NC_000020.9:g.10587149T>A | NCBI36 |
| NG_007496.1:g.20546A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.661A>T MANE Select | ENSP00000254958.4:p.Met221Leu | |
| ENST00000254958.9:c.661A>T | ENSP00000254958.4:p.Met221Leu | |
| ENST00000423891.6:n.527A>T | ||
| NM_000214.2:c.661A>T | NP_000205.1:p.Met221Leu | |
| NM_000214.3:c.661A>T MANE Select | NP_000205.1:p.Met221Leu |