Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98578040G>C , CM000671.2:g.98578040G>C | GRCh38 |
| NC_000009.11:g.101340322G>C , CM000671.1:g.101340322G>C | GRCh37 |
| NC_000009.10:g.100380143G>C | NCBI36 |
| NG_016426.1:g.136158C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259455.4:c.354C>G MANE Select | ENSP00000259455.2:p.Tyr118Ter | |
| ENST00000637410.1:n.132C>G | ||
| ENST00000637717.1:c.-31C>G | ENSP00000490789.1:n.-31C>G | |
| ENST00000259455.3:c.354C>G | ENSP00000259455.2:p.Tyr118Ter | |
| ENST00000634227.1:n.128C>G | ||
| NM_005458.7:c.354C>G | NP_005449.5:p.Tyr118Ter | |
| NM_005458.8:c.354C>G MANE Select | NP_005449.5:p.Tyr118Ter |