Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196611T>G , CM000679.2:g.73196611T>G | GRCh38 |
| NC_000017.10:g.71192750T>G , CM000679.1:g.71192750T>G | GRCh37 |
| NC_000017.9:g.68704345T>G | NCBI36 |
| NG_008971.1:g.8578T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.420T>G MANE Select | ENSP00000299886.4:p.Cys140Trp | |
| ENST00000299886.8:c.420T>G | ENSP00000299886.4:p.Cys140Trp | |
| ENST00000438720.7:c.418T>G | ||
| ENST00000582587.2:c.417T>G | ||
| ENST00000618996.4:c.420T>G | ENSP00000479450.1:p.Cys140Trp | |
| NM_018714.2:c.420T>G | NP_061184.1:p.Cys140Trp | |
| NM_018714.3:c.420T>G MANE Select | NP_061184.1:p.Cys140Trp |