Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19956030C>A , CM000670.2:g.19956030C>A | GRCh38 |
| NC_000008.10:g.19813541C>A , CM000670.1:g.19813541C>A | GRCh37 |
| NC_000008.9:g.19857821C>A | NCBI36 |
| NG_008855.1:g.21960C>A | |
| NG_008855.2:g.59314C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.965C>A MANE Select | ENSP00000497642.1:p.Ala322Asp | |
| ENST00000650478.1:c.26C>A | ENSP00000497560.1:p.Ala9Asp | |
| ENST00000311322.8:c.965C>A | ENSP00000309757.6:p.Ala322Asp | |
| NM_000237.2:c.965C>A | NP_000228.1:p.Ala322Asp | |
| NM_000237.3:c.965C>A MANE Select | NP_000228.1:p.Ala322Asp |