Linked Data
gnomAD v4:
15-48410636-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410636G>T , CM000677.2:g.48410636G>T | GRCh38 |
| NC_000015.9:g.48702833G>T , CM000677.1:g.48702833G>T | GRCh37 |
| NC_000015.8:g.46490125G>T | NCBI36 |
| NG_008805.2:g.240153C>A , LRG_778:g.240153C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1778C>A | ENSP00000453958.2:n.*1778C>A | |
| ENST00000682158.1:n.2351C>A | ||
| ENST00000682170.1:n.3151C>A | ||
| ENST00000682767.1:n.2267C>A | ||
| ENST00000316623.10:c.*354C>A MANE Select | ENSP00000325527.5:n.*354C>A | |
| ENST00000316623.9:c.*354C>A | ENSP00000325527.5:n.*354C>A | |
| ENST00000559133.5:c.4339C>A | ||
| NM_000138.4:c.*354C>A , LRG_778t1:c.*354C>A | NP_000129.3:n.*354C>A | |
| NM_000138.5:c.*354C>A MANE Select | NP_000129.3:n.*354C>A |