Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714043T>A , CM000681.2:g.6714043T>A | GRCh38 |
| NC_000019.9:g.6714054T>A , CM000681.1:g.6714054T>A | GRCh37 |
| NC_000019.8:g.6665054T>A | NCBI36 |
| NG_009557.1:g.11609A>T , LRG_27:g.11609A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.599A>T | ENSP00000512083.1:p.Lys200Ile | |
| ENST00000245907.11:c.722A>T MANE Select | ENSP00000245907.4:p.Lys241Ile | |
| ENST00000245907.10:c.722A>T | ENSP00000245907.4:p.Lys241Ile | |
| ENST00000595577.1:n.226A>T | ||
| NM_000064.3:c.722A>T | NP_000055.2:p.Lys241Ile | |
| NM_000064.4:c.722A>T MANE Select | NP_000055.2:p.Lys241Ile |