Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246280T>A , CM000674.2:g.65246280T>A | GRCh38 |
| NC_000012.11:g.65640060T>A , CM000674.1:g.65640060T>A | GRCh37 |
| NC_000012.10:g.63926327T>A | NCBI36 |
| NG_016210.1:g.81710T>A | |
| NG_016210.2:g.81710T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2691T>A MANE Select | ENSP00000308369.2:p.His897Gln | |
| ENST00000308330.2:c.2691T>A | ENSP00000308369.2:p.His897Gln | |
| ENST00000539442.1:n.673T>A | ||
| ENST00000544506.1:n.411T>A | ||
| ENST00000545026.1:n.509T>A | ||
| NM_001167614.1:c.2688T>A | NP_001161086.1:p.His896Gln | |
| NM_014319.4:c.2691T>A | NP_055134.2:p.His897Gln | |
| NM_014319.5:c.2691T>A MANE Select | NP_055134.2:p.His897Gln | |
| NM_001167614.2:c.2688T>A | NP_001161086.1:p.His896Gln |