Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.7982279T>A , CM000682.2:g.7982279T>A | GRCh38 |
| NC_000020.10:g.7962926T>A , CM000682.1:g.7962926T>A | GRCh37 |
| NC_000020.9:g.7910926T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021156.4:c.1022A>T MANE Select | NP_066979.2:p.Lys341Ile |
| ENST00000246024.7:c.1022A>T MANE Select | ENSP00000246024.2:p.Lys341Ile |
| NM_021156.3:c.1022A>T | NP_066979.2:p.Lys341Ile |
| ENST00000246024.6:c.1022A>T | ENSP00000246024.2:p.Lys341Ile |