Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529597T>A , CM000681.2:g.7529597T>A | GRCh38 |
| NC_000019.9:g.7594483T>A , CM000681.1:g.7594483T>A | GRCh37 |
| NC_000019.8:g.7500483T>A | NCBI36 |
| NG_013374.1:g.446T>A | |
| NG_015806.1:g.11988T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1244T>A MANE Select | ENSP00000264079.5:p.Ile415Asn | |
| ENST00000264079.10:c.1244T>A | ENSP00000264079.5:p.Ile415Asn | |
| ENST00000394321.9:n.1559T>A | ||
| ENST00000594692.1:n.240T>A | ||
| ENST00000595860.5:n.427T>A | ||
| ENST00000599334.1:c.121T>A | ||
| NM_020533.2:c.1244T>A | NP_065394.1:p.Ile415Asn | |
| NM_020533.3:c.1244T>A MANE Select | NP_065394.1:p.Ile415Asn |