Linked Data
MyVariant Identifiers:
chr11:g.47604008T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582456T>A , CM000673.2:g.47582456T>A | GRCh38 |
| NC_000011.9:g.47604008T>A , CM000673.1:g.47604008T>A | GRCh37 |
| NC_000011.8:g.47560584T>A | NCBI36 |
| NG_011946.1:g.8447T>A | |
| NG_011946.2:g.8447T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.615T>A MANE Select | ENSP00000263774.4:p.Ser205= | |
| ENST00000531351.2:n.1810T>A | ||
| ENST00000677462.1:n.3089T>A | ||
| ENST00000678975.1:n.2872T>A | ||
| ENST00000263774.8:c.615T>A | ENSP00000263774.4:p.Ser205= | |
| ENST00000524568.1:n.718T>A | ||
| ENST00000525212.1:n.270T>A | ||
| ENST00000525378.5:n.553T>A | ||
| ENST00000527178.1:n.215T>A | ||
| ENST00000533507.5:n.1509T>A | ||
| NM_004551.2:c.615T>A | NP_004542.1:p.Ser205= | |
| NM_004551.3:c.615T>A MANE Select | NP_004542.1:p.Ser205= |