Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33850972A>G , CM000682.2:g.33850972A>G | GRCh38 |
| NC_000020.10:g.32438778A>G , CM000682.1:g.32438778A>G | GRCh37 |
| NC_000020.9:g.31902439A>G | NCBI36 |
| NG_015820.1:g.44669A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217402.3:c.389A>G MANE Select | ENSP00000217402.2:p.Glu130Gly | |
| ENST00000217402.2:c.389A>G | ENSP00000217402.2:p.Glu130Gly | |
| NM_176812.4:c.389A>G | NP_789782.1:p.Glu130Gly | |
| NM_176812.5:c.389A>G MANE Select | NP_789782.1:p.Glu130Gly |