Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154869160T>C , CM000663.2:g.154869160T>C | GRCh38 |
| NC_000001.10:g.154841636T>C , CM000663.1:g.154841636T>C | GRCh37 |
| NC_000001.9:g.153108260T>C | NCBI36 |
| NG_016807.2:g.6119A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002249.6:c.805A>G MANE Select | NP_002240.3:p.Lys269Glu |
| ENST00000271915.9:c.805A>G MANE Select | ENSP00000271915.3:p.Lys269Glu |
| NM_001204087.1:c.805A>G | NP_001191016.1:p.Lys269Glu |
| NM_001204087.2:c.805A>G | NP_001191016.1:p.Lys269Glu |
| NM_002249.5:c.805A>G | NP_002240.3:p.Lys269Glu |
| ENST00000271915.8:c.805A>G | ENSP00000271915.3:p.Lys269Glu |
| ENST00000618040.4:c.805A>G | ENSP00000481848.1:p.Lys269Glu |