Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370551A>T , CM000683.2:g.34370551A>T | GRCh38 |
| NC_000021.8:g.35742850A>T , CM000683.1:g.35742850A>T | GRCh37 |
| NC_000021.7:g.34664720A>T | NCBI36 |
| NG_008804.1:g.11528A>T , LRG_291:g.11528A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.73A>T MANE Select | ENSP00000290310.2:p.Asn25Tyr | |
| ENST00000290310.3:c.73A>T | ENSP00000290310.2:p.Asn25Tyr | |
| NM_172201.1:c.73A>T , LRG_291t1:c.73A>T | NP_751951.1:p.Asn25Tyr | |
| XR_937683.1:n.770T>A | ||
| XR_937684.1:n.770T>A | ||
| XR_001755012.2:n.891T>A | ||
| XR_001755013.2:n.770T>A | ||
| XR_937683.2:n.770T>A | ||
| NM_172201.2:c.73A>T MANE Select | NP_751951.1:p.Asn25Tyr |