Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.57469479A>G , CM000669.2:g.57469479A>G | GRCh38 |
| NC_000007.13:g.57529185A>G , CM000669.1:g.57529185A>G | GRCh37 |
| NC_000007.12:g.57533127A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001159279.1:c.1018A>G MANE Select | NP_001152751.1:p.Lys340Glu |
| ENST00000420713.2:c.1018A>G MANE Select | ENSP00000394248.1:p.Lys340Glu |
| ENST00000420713.1:c.1018A>G | ENSP00000394248.1:p.Lys340Glu |