Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44111058G>A , CM000669.2:g.44111058G>A | GRCh38 |
| NC_000007.13:g.44150657G>A , CM000669.1:g.44150657G>A | GRCh37 |
| NC_000007.12:g.44117182G>A | NCBI36 |
| NG_056775.1:g.11739G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.1630+1G>A MANE Select | NP_001120.3:n.1630+1G>A |
| ENST00000223357.8:c.1630+1G>A MANE Select | ENSP00000223357.3:n.1630+1G>A |
| NM_001129.4:c.1630+1G>A | NP_001120.3:n.1630+1G>A |
| ENST00000223357.7:c.1630+1G>A | ENSP00000223357.3:n.1630+1G>A |
| ENST00000434445.1:c.416+1G>A | ENSP00000397241.1:n.416+1G>A |
| ENST00000450684.2:c.260G>A | ENSP00000398878.2:p.Arg87His |
| XM_011515162.1:c.1552+1G>A | XP_011513464.1:n.1552+1G>A |