Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44114181A>G , CM000669.2:g.44114181A>G | GRCh38 |
| NC_000007.13:g.44153780A>G , CM000669.1:g.44153780A>G | GRCh37 |
| NC_000007.12:g.44120305A>G | NCBI36 |
| NG_056775.1:g.14862A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.3397A>G MANE Select | NP_001120.3:p.Lys1133Glu |
| ENST00000223357.8:c.3397A>G MANE Select | ENSP00000223357.3:p.Lys1133Glu |
| NM_001129.4:c.3397A>G | NP_001120.3:p.Lys1133Glu |
| ENST00000223357.7:c.3397A>G | ENSP00000223357.3:p.Lys1133Glu |
| ENST00000413907.1:c.1794A>G | |
| ENST00000450684.2:c.2122A>G | ENSP00000398878.2:p.Lys708Glu |
| XM_011515162.1:c.3319A>G | XP_011513464.1:p.Lys1107Glu |