Linked Data
gnomAD v4:
11-47582448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582448C>T , CM000673.2:g.47582448C>T | GRCh38 |
| NC_000011.9:g.47604000C>T , CM000673.1:g.47604000C>T | GRCh37 |
| NC_000011.8:g.47560576C>T | NCBI36 |
| NG_011946.1:g.8439C>T | |
| NG_011946.2:g.8439C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.607C>T MANE Select | ENSP00000263774.4:p.Pro203Ser | |
| ENST00000531351.2:n.1802C>T | ||
| ENST00000677462.1:n.3081C>T | ||
| ENST00000678975.1:n.2864C>T | ||
| ENST00000263774.8:c.607C>T | ENSP00000263774.4:p.Pro203Ser | |
| ENST00000524568.1:n.710C>T | ||
| ENST00000525212.1:n.262C>T | ||
| ENST00000525378.5:n.545C>T | ||
| ENST00000527178.1:n.207C>T | ||
| ENST00000533507.5:n.1501C>T | ||
| NM_004551.2:c.607C>T | NP_004542.1:p.Pro203Ser | |
| NM_004551.3:c.607C>T MANE Select | NP_004542.1:p.Pro203Ser |