Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024012T>A , CM000682.2:g.59024012T>A | GRCh38 |
| NC_000020.10:g.57599067T>A , CM000682.1:g.57599067T>A | GRCh37 |
| NC_000020.9:g.57032462T>A | NCBI36 |
| NG_023424.2:g.9759T>A , LRG_581:g.9759T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217133.2:c.585T>A MANE Select | ENSP00000217133.1:p.Asn195Lys | |
| ENST00000217133.1:c.585T>A | ENSP00000217133.1:p.Asn195Lys | |
| NM_030773.3:c.585T>A , LRG_581t1:c.585T>A | NP_110400.1:p.Asn195Lys | |
| XM_017028085.1:c.519T>A | XP_016883574.1:p.Asn173Lys | |
| NM_030773.4:c.585T>A MANE Select | NP_110400.1:p.Asn195Lys |