Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33850966T>C , CM000682.2:g.33850966T>C | GRCh38 |
| NC_000020.10:g.32438772T>C , CM000682.1:g.32438772T>C | GRCh37 |
| NC_000020.9:g.31902433T>C | NCBI36 |
| NG_015820.1:g.44663T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217402.3:c.383T>C MANE Select | ENSP00000217402.2:p.Val128Ala | |
| ENST00000217402.2:c.383T>C | ENSP00000217402.2:p.Val128Ala | |
| NM_176812.4:c.383T>C | NP_789782.1:p.Val128Ala | |
| NM_176812.5:c.383T>C MANE Select | NP_789782.1:p.Val128Ala |