Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124406T>C , CM000664.2:g.71124406T>C | GRCh38 |
| NC_000002.11:g.71351536T>C , CM000664.1:g.71351536T>C | GRCh37 |
| NC_000002.10:g.71205044T>C | NCBI36 |
| NG_008977.1:g.10859A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.178A>G MANE Select | ENSP00000244217.5:p.Lys60Glu | |
| ENST00000244217.5:c.178A>G | ENSP00000244217.5:p.Lys60Glu | |
| ENST00000413592.5:c.46A>G | ENSP00000391140.1:p.Lys16Glu | |
| ENST00000486135.1:c.-108A>G | ENSP00000441569.1:n.-108A>G | |
| ENST00000494660.6:c.-108A>G | ENSP00000437361.1:n.-108A>G | |
| NM_032601.3:c.178A>G | NP_115990.3:p.Lys60Glu | |
| XM_005264613.2:c.178A>G | XP_005264670.1:p.Lys60Glu | |
| XR_939729.1:n.247A>G | ||
| XR_939729.2:n.247A>G | ||
| NM_032601.4:c.178A>G MANE Select | NP_115990.3:p.Lys60Glu |