Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33850972A>C , CM000682.2:g.33850972A>C | GRCh38 |
| NC_000020.10:g.32438778A>C , CM000682.1:g.32438778A>C | GRCh37 |
| NC_000020.9:g.31902439A>C | NCBI36 |
| NG_015820.1:g.44669A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217402.3:c.389A>C MANE Select | ENSP00000217402.2:p.Glu130Ala | |
| ENST00000217402.2:c.389A>C | ENSP00000217402.2:p.Glu130Ala | |
| NM_176812.4:c.389A>C | NP_789782.1:p.Glu130Ala | |
| NM_176812.5:c.389A>C MANE Select | NP_789782.1:p.Glu130Ala |