Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75176381C>T , CM000676.2:g.75176381C>T | GRCh38 |
| NC_000014.8:g.75643084C>T , CM000676.1:g.75643084C>T | GRCh37 |
| NC_000014.7:g.74712837C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006827.6:c.199G>A MANE Select | NP_006818.3:p.Ala67Thr |
| ENST00000303575.9:c.199G>A MANE Select | ENSP00000303145.4:p.Ala67Thr |
| NM_006827.5:c.199G>A | NP_006818.3:p.Ala67Thr |
| ENST00000303575.8:c.199G>A | ENSP00000303145.4:p.Ala67Thr |
| ENST00000555085.1:n.232G>A | |
| ENST00000555873.1:c.199G>A | ENSP00000450726.1:p.Ala67Thr |
| ENST00000622441.1:n.152G>A |