Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52792247G>T , CM000674.2:g.52792247G>T | GRCh38 |
| NC_000012.11:g.53186031G>T , CM000674.1:g.53186031G>T | GRCh37 |
| NC_000012.10:g.51472298G>T | NCBI36 |
| NG_008350.1:g.8862C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417996.2:c.1180C>A MANE Select | ENSP00000413479.2:p.Gln394Lys | |
| NM_057088.2:c.1180C>A | NP_476429.2:p.Gln394Lys | |
| XM_011538324.1:c.820C>A | XP_011536626.1:p.Gln274Lys | |
| XM_024448975.1:c.1444C>A | XP_024304743.1:p.Gln482Lys | |
| NM_057088.3:c.1180C>A MANE Select | NP_476429.2:p.Gln394Lys |