Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59269144G>T , CM000680.2:g.59269144G>T | GRCh38 |
| NC_000018.9:g.56936376G>T , CM000680.1:g.56936376G>T | GRCh37 |
| NC_000018.8:g.55087356G>T | NCBI36 |
| NG_013031.1:g.9250C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.901C>A MANE Select | ENSP00000334813.3:p.Pro301Thr | |
| ENST00000256852.7:c.*332C>A | ENSP00000256852.7:n.*332C>A | |
| ENST00000334889.3:c.901C>A | ENSP00000334813.3:p.Pro301Thr | |
| NM_013435.2:c.901C>A | NP_038463.2:p.Pro301Thr | |
| NM_013435.3:c.901C>A MANE Select | NP_038463.2:p.Pro301Thr |