Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27079297T>A , CM000664.2:g.27079297T>A | GRCh38 |
| NC_000002.11:g.27302165T>A , CM000664.1:g.27302165T>A | GRCh37 |
| NC_000002.10:g.27155669T>A | NCBI36 |
| NG_046849.1:g.5731T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007046.4:c.170+62T>A MANE Select | NP_008977.1:n.170+62T>A |
| ENST00000380320.9:c.170+62T>A MANE Select | ENSP00000369677.4:n.170+62T>A |
| NM_007046.3:c.170+62T>A | NP_008977.1:n.170+62T>A |
| ENST00000380320.8:c.170+62T>A | ENSP00000369677.4:n.170+62T>A |
| XM_006711928.2:c.170+62T>A | XP_006711991.1:n.170+62T>A |