Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44113378A>G , CM000669.2:g.44113378A>G | GRCh38 |
| NC_000007.13:g.44152977A>G , CM000669.1:g.44152977A>G | GRCh37 |
| NC_000007.12:g.44119502A>G | NCBI36 |
| NG_056775.1:g.14059A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.2809+27A>G MANE Select | NP_001120.3:n.2809+27A>G |
| ENST00000223357.8:c.2809+27A>G MANE Select | ENSP00000223357.3:n.2809+27A>G |
| NM_001129.4:c.2809+27A>G | NP_001120.3:n.2809+27A>G |
| ENST00000223357.7:c.2809+27A>G | ENSP00000223357.3:n.2809+27A>G |
| ENST00000413907.1:c.1206+27A>G | |
| ENST00000450684.2:c.1534+27A>G | ENSP00000398878.2:n.1534+27A>G |
| XM_011515162.1:c.2731+27A>G | XP_011513464.1:n.2731+27A>G |