Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451633T>A , CM000674.2:g.52451633T>A | GRCh38 |
| NC_000012.11:g.52845417T>A , CM000674.1:g.52845417T>A | GRCh37 |
| NC_000012.10:g.51131684T>A | NCBI36 |
| NG_008299.1:g.5494A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.446A>T MANE Select | ENSP00000252252.3:p.Asn149Ile | |
| ENST00000252252.3:c.446A>T | ENSP00000252252.3:p.Asn149Ile | |
| NM_005555.3:c.446A>T | NP_005546.2:p.Asn149Ile | |
| NM_005555.4:c.446A>T MANE Select | NP_005546.2:p.Asn149Ile |