Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55965748A>G , CM000666.2:g.55965748A>G | GRCh38 |
| NC_000004.11:g.56831914A>G , CM000666.1:g.56831914A>G | GRCh37 |
| NC_000004.10:g.56526671A>G | NCBI36 |
| NG_032806.1:g.21941A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025009.5:c.933A>G MANE Select | NP_079285.2:p.Lys311= |
| ENST00000257287.5:c.933A>G MANE Select | ENSP00000257287.3:p.Lys311= |
| NM_025009.4:c.933A>G | NP_079285.2:p.Lys311= |
| ENST00000257287.4:c.933A>G | ENSP00000257287.3:p.Lys311= |
| ENST00000506202.1:n.883A>G | |
| ENST00000515081.1:n.567A>G | |
| XM_005265788.4:c.-135A>G | XP_005265845.1:n.-135A>G |
| XM_006714055.2:c.933A>G | XP_006714118.1:p.Lys311= |
| XM_006714055.3:c.933A>G | XP_006714118.1:p.Lys311= |
| XR_941063.1:n.472-745T>C | |
| XR_941064.1:n.471+5025T>C |