Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145224T>C , CM000670.2:g.38145224T>C | GRCh38 |
| NC_000008.10:g.38002742T>C , CM000670.1:g.38002742T>C | GRCh37 |
| NC_000008.9:g.38121899T>C | NCBI36 |
| NG_011827.1:g.10859A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.742A>G MANE Select | ENSP00000276449.3:p.Lys248Glu | |
| ENST00000276449.8:c.742A>G | ENSP00000276449.3:p.Lys248Glu | |
| ENST00000520114.1:n.1876A>G | ||
| ENST00000522050.1:c.586+739A>G | ||
| NM_000349.2:c.742A>G | NP_000340.2:p.Lys248Glu | |
| XM_006716392.1:c.650+739A>G | XP_006716455.1:n.650+739A>G | |
| NM_000349.3:c.742A>G MANE Select | NP_000340.2:p.Lys248Glu |