Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225518G>T , CM000668.2:g.3225518G>T | GRCh38 |
| NC_000006.11:g.3225752G>T , CM000668.1:g.3225752G>T | GRCh37 |
| NC_000006.10:g.3170751G>T | NCBI36 |
| NG_016715.1:g.7217C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.571C>A MANE Select | ENSP00000259818.6:p.Gln191Lys | |
| ENST00000680070.1:n.1501C>A | ||
| ENST00000681707.1:n.1398C>A | ||
| ENST00000681757.1:n.876C>A | ||
| ENST00000259818.7:c.571C>A | ENSP00000259818.6:p.Gln191Lys | |
| ENST00000473006.1:n.688C>A | ||
| NM_178012.4:c.571C>A | NP_821080.1:p.Gln191Lys | |
| XM_011514571.1:c.355C>A | XP_011512873.1:p.Gln119Lys | |
| NM_178012.5:c.571C>A MANE Select | NP_821080.1:p.Gln191Lys |