Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541198C>A , CM000680.2:g.31541198C>A | GRCh38 |
| NC_000018.9:g.29121161C>A , CM000680.1:g.29121161C>A | GRCh37 |
| NC_000018.8:g.27375159C>A | NCBI36 |
| NG_007072.3:g.47957C>A , LRG_397:g.47957C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1885C>A MANE Select | ENSP00000261590.8:p.Pro629Thr | |
| ENST00000261590.12:c.1885C>A | ENSP00000261590.8:p.Pro629Thr | |
| NM_001943.3:c.1885C>A , LRG_397t1:c.1885C>A | NP_001934.2:p.Pro629Thr | |
| NM_001943.4:c.1885C>A | NP_001934.2:p.Pro629Thr | |
| XM_024451095.1:c.1351C>A | XP_024306863.1:p.Pro451Thr | |
| NM_001943.5:c.1885C>A MANE Select | NP_001934.2:p.Pro629Thr |