Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123040618A>T , CM000672.2:g.123040618A>T | GRCh38 |
| NC_000010.10:g.124800134A>T , CM000672.1:g.124800134A>T | GRCh37 |
| NC_000010.9:g.124790124A>T | NCBI36 |
| NG_008003.1:g.36706A>T , LRG_451:g.36706A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.456A>T MANE Select | ENSP00000357873.3:p.Lys152Asn | |
| ENST00000358776.6:c.456A>T | ENSP00000357873.3:p.Lys152Asn | |
| ENST00000368869.8:c.150A>T | ENSP00000357862.4:p.Lys50Asn | |
| ENST00000411816.2:n.473A>T | ||
| NM_001609.3:c.456A>T , LRG_451t1:c.456A>T | NP_001600.1:p.Lys152Asn | |
| NM_001330174.1:c.150A>T | NP_001317103.1:p.Lys50Asn | |
| NM_001330174.2:c.150A>T | NP_001317103.1:p.Lys50Asn | |
| NM_001609.4:c.456A>T MANE Select | NP_001600.1:p.Lys152Asn | |
| NM_001330174.3:c.150A>T | NP_001317103.1:p.Lys50Asn |