Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28578261A>T , CM000679.2:g.28578261A>T | GRCh38 |
| NC_000017.10:g.26905279A>T , CM000679.1:g.26905279A>T | GRCh37 |
| NC_000017.9:g.23929406A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321765.10:c.3386T>A MANE Select | ENSP00000323300.5:p.Met1129Lys | |
| ENST00000321765.9:c.3386T>A | ENSP00000323300.5:p.Met1129Lys | |
| ENST00000481916.6:c.*1195+25790T>A | ENSP00000436369.2:n.*1195+25790T>A | |
| ENST00000580377.2:n.90T>A | ||
| ENST00000580676.1:n.604T>A | ||
| ENST00000582076.1:c.423T>A | ||
| ENST00000582175.1:n.332T>A | ||
| NM_006461.3:c.3386T>A | NP_006452.3:p.Met1129Lys | |
| NM_006461.4:c.3386T>A MANE Select | NP_006452.3:p.Met1129Lys |