Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52844835G>T , CM000675.2:g.52844835G>T | GRCh38 |
| NC_000013.10:g.53418970G>T , CM000675.1:g.53418970G>T | GRCh37 |
| NC_000013.9:g.52316971G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338862.5:c.2647C>A | ENSP00000341350.4:p.Pro883Thr | |
| ENST00000377942.7:c.2938C>A MANE Select | ENSP00000367177.3:p.Pro980Thr | |
| ENST00000613548.1:n.368C>A | ||
| NM_002590.3:c.2938C>A | NP_002581.2:p.Pro980Thr | |
| NM_032949.2:c.2647C>A | NP_116567.1:p.Pro883Thr | |
| NM_002590.4:c.2938C>A MANE Select | NP_002581.2:p.Pro980Thr | |
| NM_032949.3:c.2647C>A | NP_116567.1:p.Pro883Thr |