Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714036G>T , CM000681.2:g.6714036G>T | GRCh38 |
| NC_000019.9:g.6714047G>T , CM000681.1:g.6714047G>T | GRCh37 |
| NC_000019.8:g.6665047G>T | NCBI36 |
| NG_009557.1:g.11616C>A , LRG_27:g.11616C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.606C>A | ENSP00000512083.1:p.Tyr202Ter | |
| ENST00000245907.11:c.729C>A MANE Select | ENSP00000245907.4:p.Tyr243Ter | |
| ENST00000245907.10:c.729C>A | ENSP00000245907.4:p.Tyr243Ter | |
| ENST00000595577.1:n.233C>A | ||
| NM_000064.3:c.729C>A | NP_000055.2:p.Tyr243Ter | |
| NM_000064.4:c.729C>A MANE Select | NP_000055.2:p.Tyr243Ter |