Linked Data
gnomAD v4:
15-48410897-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410897T>G , CM000677.2:g.48410897T>G | GRCh38 |
| NC_000015.9:g.48703094T>G , CM000677.1:g.48703094T>G | GRCh37 |
| NC_000015.8:g.46490386T>G | NCBI36 |
| NG_008805.2:g.239892A>C , LRG_778:g.239892A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1517A>C | ENSP00000453958.2:n.*1517A>C | |
| ENST00000682158.1:n.2090A>C | ||
| ENST00000682170.1:n.2890A>C | ||
| ENST00000682767.1:n.2006A>C | ||
| ENST00000316623.10:c.*93A>C MANE Select | ENSP00000325527.5:n.*93A>C | |
| ENST00000316623.9:c.*93A>C | ENSP00000325527.5:n.*93A>C | |
| ENST00000559133.5:c.4078A>C | ||
| NM_000138.4:c.*93A>C , LRG_778t1:c.*93A>C | NP_000129.3:n.*93A>C | |
| NM_000138.5:c.*93A>C MANE Select | NP_000129.3:n.*93A>C |