Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519025C>T , CM000674.2:g.52519025C>T | GRCh38 |
| NC_000012.11:g.52912809C>T , CM000674.1:g.52912809C>T | GRCh37 |
| NC_000012.10:g.51199076C>T | NCBI36 |
| NG_008297.1:g.6435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.691G>A MANE Select | ENSP00000252242.4:p.Asp231Asn | |
| ENST00000252242.8:c.691G>A | ENSP00000252242.4:p.Asp231Asn | |
| ENST00000549420.1:c.361G>A | ENSP00000447209.1:p.Asp121Asn | |
| ENST00000551013.1:n.219G>A | ||
| ENST00000551188.5:c.93G>A | ||
| ENST00000552629.5:n.789G>A | ||
| NM_000424.3:c.691G>A | NP_000415.2:p.Asp231Asn | |
| NM_000424.4:c.691G>A MANE Select | NP_000415.2:p.Asp231Asn |