Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191827A>T , CM000670.2:g.23191827A>T | GRCh38 |
| NC_000008.10:g.23049340A>T , CM000670.1:g.23049340A>T | GRCh37 |
| NC_000008.9:g.23105285A>T | NCBI36 |
| NG_032107.1:g.38341T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1274T>A MANE Select | ENSP00000221132.3:p.Ile425Asn | |
| ENST00000221132.7:c.1274T>A | ENSP00000221132.3:p.Ile425Asn | |
| ENST00000519862.1:n.329T>A | ||
| ENST00000613472.1:c.800T>A | ENSP00000480778.1:p.Ile267Asn | |
| NM_003844.3:c.1274T>A | NP_003835.3:p.Ile425Asn | |
| NM_003844.4:c.1274T>A MANE Select | NP_003835.3:p.Ile425Asn |