Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151618118C>A , CM000668.2:g.151618118C>A | GRCh38 |
| NC_000006.11:g.151939253C>A , CM000668.1:g.151939253C>A | GRCh37 |
| NC_000006.10:g.151980946C>A | NCBI36 |
| NG_021198.1:g.129079C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.2119C>A MANE Select | ENSP00000239374.6:p.Pro707Thr | |
| ENST00000239374.7:c.2119C>A | ENSP00000239374.6:p.Pro707Thr | |
| NM_025059.3:c.2119C>A | NP_079335.2:p.Pro707Thr | |
| XM_011536147.1:c.2137C>A | XP_011534449.1:p.Pro713Thr | |
| XM_011536148.1:c.1936C>A | XP_011534450.1:p.Pro646Thr | |
| XM_011536147.2:c.2137C>A | XP_011534449.1:p.Pro713Thr | |
| XM_011536148.2:c.1936C>A | XP_011534450.1:p.Pro646Thr | |
| NM_025059.4:c.2119C>A MANE Select | NP_079335.2:p.Pro707Thr |