Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598669G>T , CM000680.2:g.31598669G>T | GRCh38 |
| NC_000018.9:g.29178632G>T , CM000680.1:g.29178632G>T | GRCh37 |
| NC_000018.8:g.27432630G>T | NCBI36 |
| NG_009490.1:g.11903G>T , LRG_416:g.11903G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.438G>T MANE Select | ENSP00000237014.4:p.Lys146Asn | |
| ENST00000610404.5:c.342G>T | ENSP00000477599.2:p.Lys114Asn | |
| ENST00000649620.1:c.438G>T | ENSP00000497927.1:p.Lys146Asn | |
| ENST00000237014.7:c.438G>T | ENSP00000237014.3:p.Lys146Asn | |
| ENST00000610404.4:c.552G>T | ENSP00000477599.1:p.Lys184Asn | |
| ENST00000613781.1:c.414G>T | ENSP00000479174.1:p.Lys138Asn | |
| NM_000371.3:c.438G>T , LRG_416t1:c.438G>T | NP_000362.1:p.Lys146Asn | |
| NM_000371.4:c.438G>T MANE Select | NP_000362.1:p.Lys146Asn |