Linked Data
gnomAD v4:
15-48410914-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410914T>C , CM000677.2:g.48410914T>C | GRCh38 |
| NC_000015.9:g.48703111T>C , CM000677.1:g.48703111T>C | GRCh37 |
| NC_000015.8:g.46490403T>C | NCBI36 |
| NG_008805.2:g.239875A>G , LRG_778:g.239875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1500A>G | ENSP00000453958.2:n.*1500A>G | |
| ENST00000682158.1:n.2073A>G | ||
| ENST00000682170.1:n.2873A>G | ||
| ENST00000682767.1:n.1989A>G | ||
| ENST00000316623.10:c.*76A>G MANE Select | ENSP00000325527.5:n.*76A>G | |
| ENST00000316623.9:c.*76A>G | ENSP00000325527.5:n.*76A>G | |
| ENST00000559133.5:c.4061A>G | ||
| NM_000138.4:c.*76A>G , LRG_778t1:c.*76A>G | NP_000129.3:n.*76A>G | |
| NM_000138.5:c.*76A>G MANE Select | NP_000129.3:n.*76A>G |